C2orf49 (chromosome 2 open reading frame 49) - Rat Genome Database

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Gene: C2orf49 (chromosome 2 open reading frame 49) Homo sapiens
Analyze
Symbol: C2orf49
Name: chromosome 2 open reading frame 49
RGD ID: 1604297
HGNC Page HGNC:28772
Description: Predicted to be involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in nucleoplasm. Part of tRNA-splicing ligase complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ashwin; asw; FLJ45759; MGC5509
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382105,337,540 - 105,385,899 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2105,337,532 - 105,350,712 (+)EnsemblGRCh38hg38GRCh38
GRCh372105,953,997 - 105,965,668 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362105,320,445 - 105,328,416 (+)NCBINCBI36Build 36hg18NCBI36
Celera2100,154,460 - 100,162,431 (+)NCBICelera
Cytogenetic Map2q12.2NCBI
HuRef299,722,503 - 99,730,474 (+)NCBIHuRef
CHM1_12105,958,321 - 105,966,292 (+)NCBICHM1_1
T2T-CHM13v2.02105,798,730 - 105,846,677 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (NAS)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,NAS)
tRNA-splicing ligase complex  (IBA,IDA,IEA,NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:15815621   PMID:16680723   PMID:17081983   PMID:18445686   PMID:21311021   PMID:21832049   PMID:21873635   PMID:22174317   PMID:22939629   PMID:22944692  
PMID:22990118   PMID:24870230   PMID:26344197   PMID:28007894   PMID:28065597   PMID:28514442   PMID:29395067   PMID:30021884   PMID:31391242   PMID:32814053   PMID:33961781   PMID:34189442  
PMID:34597346   PMID:34728620   PMID:35013218   PMID:35253629   PMID:35271311   PMID:35831314   PMID:35944360   PMID:36244648   PMID:36373674   PMID:37689310  


Genomics

Comparative Map Data
C2orf49
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382105,337,540 - 105,385,899 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2105,337,532 - 105,350,712 (+)EnsemblGRCh38hg38GRCh38
GRCh372105,953,997 - 105,965,668 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362105,320,445 - 105,328,416 (+)NCBINCBI36Build 36hg18NCBI36
Celera2100,154,460 - 100,162,431 (+)NCBICelera
Cytogenetic Map2q12.2NCBI
HuRef299,722,503 - 99,730,474 (+)NCBIHuRef
CHM1_12105,958,321 - 105,966,292 (+)NCBICHM1_1
T2T-CHM13v2.02105,798,730 - 105,846,677 (+)NCBIT2T-CHM13v2.0
AI597479
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39143,137,870 - 43,155,106 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl143,137,870 - 43,155,107 (+)EnsemblGRCm39 Ensembl
GRCm38143,098,710 - 43,115,946 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl143,098,710 - 43,115,947 (+)EnsemblGRCm38mm10GRCm38
MGSCv37143,155,555 - 43,172,791 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36143,043,256 - 43,060,492 (+)NCBIMGSCv36mm8
Celera143,437,163 - 43,454,400 (+)NCBICelera
Cytogenetic Map1B- C1.1NCBI
cM Map122.27NCBI
C9h2orf49
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8952,863,565 - 52,874,234 (+)NCBIGRCr8
mRatBN7.2945,371,396 - 45,382,123 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl945,371,430 - 45,382,120 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx953,866,060 - 53,876,719 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0958,988,859 - 58,999,518 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0957,269,302 - 57,279,971 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0949,903,085 - 49,913,754 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl949,903,085 - 49,913,744 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0949,573,659 - 49,584,328 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4942,302,028 - 42,312,697 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1942,303,441 - 42,314,110 (+)NCBI
Celera943,089,365 - 43,100,034 (+)NCBICelera
Cytogenetic Map9q22NCBI
LOC102026964
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547010,223,467 - 10,234,309 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547010,223,467 - 10,234,309 (+)NCBIChiLan1.0ChiLan1.0
C12H2orf49
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21222,357,968 - 22,380,553 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A22,360,080 - 22,383,322 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A96,469,934 - 96,492,745 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A106,422,944 - 106,445,660 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A106,422,944 - 106,445,634 (+)Ensemblpanpan1.1panPan2
C10H2orf49
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11038,077,162 - 38,089,899 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1038,080,267 - 38,089,850 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1038,003,434 - 38,015,103 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01038,934,229 - 38,945,916 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1038,934,231 - 38,945,854 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11038,658,842 - 38,670,508 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01038,938,155 - 38,949,836 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01039,130,029 - 39,141,715 (-)NCBIUU_Cfam_GSD_1.0
CUNH2orf49
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629287,232,379 - 87,252,777 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936764665,524 - 675,556 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936764656,431 - 675,591 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C3H2orf49
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl349,454,562 - 49,465,447 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1349,454,558 - 49,465,442 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CUNH2orf49
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1148,970,846 - 8,982,525 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl148,971,076 - 8,978,610 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041176,690,799 - 176,703,947 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH2orf49
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247499,437,273 - 9,445,644 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247499,437,322 - 9,448,119 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C2orf49
180 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3		 pathogenic
GRCh38/hg38 2q12.1-12.2(chr2:103739593-105485794)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052690]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052690]|See cases [RCV000052690] Chr2:103739593..105485794 [GRCh38]
Chr2:104356051..106102251 [GRCh37]
Chr2:103722483..105468683 [NCBI36]
Chr2:2q12.1-12.2		 uncertain significance
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q12.1-12.2(chr2:104700043-105547876)x1 copy number loss See cases [RCV000053807] Chr2:104700043..105547876 [GRCh38]
Chr2:105316501..106164333 [GRCh37]
Chr2:104682933..105530765 [NCBI36]
Chr2:2q12.1-12.2		 uncertain significance
NM_001318895.3(FHL2):c.724C>T (p.Arg242Trp) single nucleotide variant not specified [RCV000041651] Chr2:105361399 [GRCh38]
Chr2:105977856 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys) single nucleotide variant Primary dilated cardiomyopathy [RCV000703091]|not specified [RCV000041644] Chr2:105367680 [GRCh38]
Chr2:105984137 [GRCh37]
Chr2:2q12.2		 uncertain significance
GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1 copy number loss See cases [RCV000134974] Chr2:102084275..106085903 [GRCh38]
Chr2:102700735..106702359 [GRCh37]
Chr2:102067167..106068791 [NCBI36]
Chr2:2q11.2-12.2		 likely pathogenic
GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1 copy number loss See cases [RCV000135282] Chr2:104381722..107312459 [GRCh38]
Chr2:104998180..107928915 [GRCh37]
Chr2:104364612..107295347 [NCBI36]
Chr2:2q12.1-12.3		 likely pathogenic
GRCh38/hg38 2q12.1-12.2(chr2:105239034-106152100)x3 copy number gain See cases [RCV000135475] Chr2:105239034..106152100 [GRCh38]
Chr2:105855491..106768556 [GRCh37]
Chr2:105221923..106134988 [NCBI36]
Chr2:2q12.1-12.2		 benign
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1 copy number loss See cases [RCV000140132] Chr2:104871270..105354003 [GRCh38]
Chr2:105487728..105970460 [GRCh37]
Chr2:104854160..105336892 [NCBI36]
Chr2:2q12.1-12.2		 uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 copy number gain See cases [RCV000141445] Chr2:100478285..106498909 [GRCh38]
Chr2:101094747..107115365 [GRCh37]
Chr2:100461179..106481797 [NCBI36]
Chr2:2q11.2-12.2		 uncertain significance
GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1 copy number loss See cases [RCV000142969] Chr2:101234070..105679157 [GRCh38]
Chr2:101850532..106295614 [GRCh37]
Chr2:101216964..105662046 [NCBI36]
Chr2:2q11.2-12.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3		 pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
GRCh37/hg19 2q12.1-12.2(chr2:104327052-106123901)x3 copy number gain not provided [RCV000682140] Chr2:104327052..106123901 [GRCh37]
Chr2:2q12.1-12.2		 uncertain significance
GRCh37/hg19 2q12.1-12.2(chr2:104995799-106679055)x1 copy number loss not provided [RCV000682137] Chr2:104995799..106679055 [GRCh37]
Chr2:2q12.1-12.2		 likely pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1 copy number loss not provided [RCV000848959] Chr2:102917327..106755564 [GRCh37]
Chr2:2q12.1-12.2		 uncertain significance
GRCh37/hg19 2q12.1-12.2(chr2:104816400-106617614)x3 copy number gain not provided [RCV000848461] Chr2:104816400..106617614 [GRCh37]
Chr2:2q12.1-12.2		 uncertain significance
NM_001318895.3(FHL2):c.430A>G (p.Lys144Glu) single nucleotide variant Primary dilated cardiomyopathy [RCV000547227] Chr2:105367641 [GRCh38]
Chr2:105984098 [GRCh37]
Chr2:2q12.2		 uncertain significance
NC_000002.11:g.(?_105858316)_(106002973_?)dup duplication not provided [RCV001929210] Chr2:105858316..106002973 [GRCh37]
Chr2:2q12.1-12.2		 uncertain significance
GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1 copy number loss not provided [RCV001827686] Chr2:101699537..106383710 [GRCh37]
Chr2:2q11.2-12.2		 uncertain significance
NM_001318895.3(FHL2):c.192C>T (p.Ala64=) single nucleotide variant FHL2-related disorder [RCV003915001]|Primary dilated cardiomyopathy [RCV000531538]|not provided [RCV004710470]|not specified [RCV000041642] Chr2:105373698 [GRCh38]
Chr2:105990155 [GRCh37]
Chr2:2q12.2		 benign|likely benign
NM_001318895.3(FHL2):c.321C>T (p.Thr107=) single nucleotide variant Cardiomyopathy [RCV000768817]|Primary dilated cardiomyopathy [RCV000463154]|not specified [RCV000041643] Chr2:105373569 [GRCh38]
Chr2:105990026 [GRCh37]
Chr2:2q12.2		 benign|likely benign
NM_001318895.3(FHL2):c.462T>C (p.Tyr154=) single nucleotide variant FHL2-related disorder [RCV003974926]|Primary dilated cardiomyopathy [RCV000557508]|not specified [RCV000041645] Chr2:105367609 [GRCh38]
Chr2:105984066 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.804C>T (p.Asp268=) single nucleotide variant Primary dilated cardiomyopathy [RCV001510993]|not provided [RCV001650879]|not specified [RCV000041652] Chr2:105361319 [GRCh38]
Chr2:105361319..105361320 [GRCh38]
Chr2:105977776 [GRCh37]
Chr2:105977776..105977777 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.689-10C>G single nucleotide variant Cardiomyopathy [RCV000768813]|Primary dilated cardiomyopathy [RCV000458869]|not specified [RCV000041649] Chr2:105361444 [GRCh38]
Chr2:105977901 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.689-12C>G single nucleotide variant Primary dilated cardiomyopathy [RCV002054835]|not provided [RCV000834018]|not specified [RCV000041650] Chr2:105361446 [GRCh38]
Chr2:105977903 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.688G>A (p.Gly230Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV001050417] Chr2:105363285 [GRCh38]
Chr2:105979742 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.568G>A (p.Ala190Thr) single nucleotide variant Primary dilated cardiomyopathy [RCV001365220] Chr2:105363405 [GRCh38]
Chr2:105979862 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.164C>T (p.Ser55Phe) single nucleotide variant not provided [RCV001773274] Chr2:105373726 [GRCh38]
Chr2:105990183 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.550G>A (p.Glu184Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV000796763] Chr2:105363423 [GRCh38]
Chr2:105979880 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.175C>T (p.Arg59Trp) single nucleotide variant Primary dilated cardiomyopathy [RCV001338849]|not specified [RCV004035872] Chr2:105373715 [GRCh38]
Chr2:105990172 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr) single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000208122]|Primary dilated cardiomyopathy [RCV003509515] Chr2:105361308 [GRCh38]
Chr2:105977765 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.739G>A (p.Asp247Asn) single nucleotide variant Primary dilated cardiomyopathy [RCV000793612] Chr2:105361384 [GRCh38]
Chr2:105977841 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.274T>C (p.Cys92Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV000809439] Chr2:105373616 [GRCh38]
Chr2:105990073 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.678C>T (p.Asn226=) single nucleotide variant Cardiomyopathy [RCV000768814]|FHL2-related disorder [RCV003915002]|Primary dilated cardiomyopathy [RCV000230608]|not provided [RCV004707900]|not specified [RCV000041647] Chr2:105363295 [GRCh38]
Chr2:105979752 [GRCh37]
Chr2:2q12.2		 benign|uncertain significance
NM_001318895.3(FHL2):c.688+12G>T single nucleotide variant Primary dilated cardiomyopathy [RCV002054834]|not provided [RCV001668173]|not specified [RCV000041648] Chr2:105363273 [GRCh38]
Chr2:105979730 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.291C>T (p.Tyr97=) single nucleotide variant Primary dilated cardiomyopathy [RCV000929826] Chr2:105373599 [GRCh38]
Chr2:105990056 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.533A>C (p.Glu178Ala) single nucleotide variant Primary dilated cardiomyopathy [RCV000818163] Chr2:105363440 [GRCh38]
Chr2:105979897 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.720G>A (p.Glu240=) single nucleotide variant Primary dilated cardiomyopathy [RCV001921041] Chr2:105361403 [GRCh38]
Chr2:105977860 [GRCh37]
Chr2:2q12.2		 likely benign|uncertain significance
NM_001318895.3(FHL2):c.285C>T (p.Asn95=) single nucleotide variant Primary dilated cardiomyopathy [RCV001447356] Chr2:105373605 [GRCh38]
Chr2:105990062 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.338G>A (p.Arg113His) single nucleotide variant Primary dilated cardiomyopathy [RCV001323679] Chr2:105367733 [GRCh38]
Chr2:105984190 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.502-5T>C single nucleotide variant Primary dilated cardiomyopathy [RCV002168447] Chr2:105363476 [GRCh38]
Chr2:105979933 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.559G>A (p.Val187Met) single nucleotide variant Primary dilated cardiomyopathy [RCV001344636] Chr2:105363414 [GRCh38]
Chr2:105979871 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.174C>T (p.Asp58=) single nucleotide variant Cardiomyopathy [RCV000768818]|Primary dilated cardiomyopathy [RCV000862093]|not specified [RCV000150708] Chr2:105373716 [GRCh38]
Chr2:105990173 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met) single nucleotide variant Primary dilated cardiomyopathy [RCV000535396]|not specified [RCV000155942] Chr2:105363461 [GRCh38]
Chr2:105979918 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.735T>C (p.His245=) single nucleotide variant Primary dilated cardiomyopathy [RCV001493638] Chr2:105361388 [GRCh38]
Chr2:105977845 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.333T>C (p.Gly111=) single nucleotide variant Primary dilated cardiomyopathy [RCV001488827] Chr2:105367738 [GRCh38]
Chr2:105984195 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.502-16C>T single nucleotide variant Primary dilated cardiomyopathy [RCV002144923] Chr2:105363487 [GRCh38]
Chr2:105979944 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.331+300C>T single nucleotide variant not provided [RCV001691358] Chr2:105373259 [GRCh38]
Chr2:105989716 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln) single nucleotide variant Cardiomyopathy [RCV001170738]|Primary dilated cardiomyopathy [RCV001203093] Chr2:105361398 [GRCh38]
Chr2:105977855 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.402G>C (p.Gln134His) single nucleotide variant FHL2-related disorder [RCV003945725]|Primary dilated cardiomyopathy [RCV000704166]|not specified [RCV004026654] Chr2:105367669 [GRCh38]
Chr2:105984126 [GRCh37]
Chr2:2q12.2		 benign|likely benign|uncertain significance
NM_001318895.3(FHL2):c.487G>A (p.Val163Ile) single nucleotide variant Primary dilated cardiomyopathy [RCV001299113]|not specified [RCV004619605] Chr2:105367584 [GRCh38]
Chr2:105984041 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.502-240G>A single nucleotide variant not provided [RCV001707088] Chr2:105363711 [GRCh38]
Chr2:105980168 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.509C>T (p.Thr170Ile) single nucleotide variant Primary dilated cardiomyopathy [RCV000688731] Chr2:105363464 [GRCh38]
Chr2:105979921 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro) single nucleotide variant Primary dilated cardiomyopathy [RCV000463516]|not specified [RCV000213979] Chr2:105363450 [GRCh38]
Chr2:105979907 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.406A>G (p.Ile136Val) single nucleotide variant Primary dilated cardiomyopathy [RCV000807421] Chr2:105367665 [GRCh38]
Chr2:105984122 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.332-6T>A single nucleotide variant Cardiomyopathy [RCV001171210]|Primary dilated cardiomyopathy [RCV001859104] Chr2:105367745 [GRCh38]
Chr2:105984202 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.782G>A (p.Arg261His) single nucleotide variant Primary dilated cardiomyopathy [RCV001345823]|not specified [RCV004036466] Chr2:105361341 [GRCh38]
Chr2:105977798 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.337dup (p.Arg113fs) duplication Primary dilated cardiomyopathy [RCV002010117] Chr2:105367733..105367734 [GRCh38]
Chr2:105984190..105984191 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.513G>A (p.Thr171=) single nucleotide variant Primary dilated cardiomyopathy [RCV002524013]|not provided [RCV000493250] Chr2:105363460 [GRCh38]
Chr2:105979917 [GRCh37]
Chr2:2q12.2		 likely benign|uncertain significance
NM_001318895.3(FHL2):c.688+139_688+142dup duplication not provided [RCV001656364] Chr2:105363142..105363143 [GRCh38]
Chr2:105979599..105979600 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.285C>G (p.Asn95Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV001920236] Chr2:105373605 [GRCh38]
Chr2:105990062 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.530G>A (p.Arg177Gln) single nucleotide variant Cardiomyopathy [RCV000768816]|Primary dilated cardiomyopathy [RCV000205480]|not provided [RCV004707899]|not specified [RCV000041646] Chr2:105363443 [GRCh38]
Chr2:105979900 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.340A>G (p.Lys114Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000208288] Chr2:105367731 [GRCh38]
Chr2:105984188 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.183G>T (p.Trp61Cys) single nucleotide variant Primary dilated cardiomyopathy [RCV000553142] Chr2:105373707 [GRCh38]
Chr2:105990164 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.351C>T (p.Tyr117=) single nucleotide variant Primary dilated cardiomyopathy [RCV000532346] Chr2:105367720 [GRCh38]
Chr2:105984177 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.332-7A>G single nucleotide variant Primary dilated cardiomyopathy [RCV001516051] Chr2:105367746 [GRCh38]
Chr2:105984203 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.651T>C (p.Tyr217=) single nucleotide variant Primary dilated cardiomyopathy [RCV001941754] Chr2:105363322 [GRCh38]
Chr2:105979779 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.392G>A (p.Arg131His) single nucleotide variant FHL2-related disorder [RCV003411448]|Primary dilated cardiomyopathy [RCV001036798]|not specified [RCV000609117] Chr2:105367679 [GRCh38]
Chr2:105984136 [GRCh37]
Chr2:2q12.2		 likely benign|uncertain significance
NM_001318895.3(FHL2):c.701C>T (p.Thr234Ile) single nucleotide variant not provided [RCV000489026] Chr2:105361422 [GRCh38]
Chr2:105977879 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.801G>A (p.Arg267=) single nucleotide variant Primary dilated cardiomyopathy [RCV001480510] Chr2:105361322 [GRCh38]
Chr2:105977779 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV001238155]|not specified [RCV000156246] Chr2:105363295 [GRCh38]
Chr2:105979752 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.224T>G (p.Leu75Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV001985382] Chr2:105373666 [GRCh38]
Chr2:105990123 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.281C>T (p.Ser94Phe) single nucleotide variant Primary dilated cardiomyopathy [RCV001305120] Chr2:105373609 [GRCh38]
Chr2:105990066 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.293C>T (p.Ser98Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV002026801] Chr2:105373597 [GRCh38]
Chr2:105990054 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.307G>A (p.Glu103Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV001234966] Chr2:105373583 [GRCh38]
Chr2:105990040 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.211T>G (p.Cys71Gly) single nucleotide variant Primary dilated cardiomyopathy [RCV001917111]|not specified [RCV004041174] Chr2:105373679 [GRCh38]
Chr2:105990136 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.219C>G (p.Asn73Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV002020684] Chr2:105373671 [GRCh38]
Chr2:105990128 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.507C>T (p.Ile169=) single nucleotide variant Primary dilated cardiomyopathy [RCV000868244] Chr2:105363466 [GRCh38]
Chr2:105979923 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.688+7G>A single nucleotide variant Primary dilated cardiomyopathy [RCV001479506] Chr2:105363278 [GRCh38]
Chr2:105979735 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.738C>T (p.Asn246=) single nucleotide variant Primary dilated cardiomyopathy [RCV002147769] Chr2:105361385 [GRCh38]
Chr2:105977842 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.157-14G>A single nucleotide variant Primary dilated cardiomyopathy [RCV002191564] Chr2:105373747 [GRCh38]
Chr2:105990204 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.388C>T (p.His130Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV001314431] Chr2:105367683 [GRCh38]
Chr2:105984140 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) single nucleotide variant Cardiomyopathy [RCV001171209]|Primary dilated cardiomyopathy [RCV000546432]|not specified [RCV000154721] Chr2:105367734 [GRCh38]
Chr2:105984191 [GRCh37]
Chr2:2q12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001318895.3(FHL2):c.715T>G (p.Phe239Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000208406] Chr2:105361408 [GRCh38]
Chr2:105977865 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.731G>A (p.Trp244Ter) single nucleotide variant Primary dilated cardiomyopathy [RCV001946209] Chr2:105361392 [GRCh38]
Chr2:105977849 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.475G>A (p.Ala159Thr) single nucleotide variant Primary dilated cardiomyopathy [RCV001338695] Chr2:105367596 [GRCh38]
Chr2:105984053 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.610G>A (p.Asp204Asn) single nucleotide variant Primary dilated cardiomyopathy [RCV000706871] Chr2:105363363 [GRCh38]
Chr2:105979820 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.261G>C (p.Leu87=) single nucleotide variant Primary dilated cardiomyopathy [RCV002092208] Chr2:105373629 [GRCh38]
Chr2:105990086 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.820G>A (p.Asp274Asn) single nucleotide variant Primary dilated cardiomyopathy [RCV001219457] Chr2:105361303 [GRCh38]
Chr2:105977760 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.502-11C>T single nucleotide variant Primary dilated cardiomyopathy [RCV002132559] Chr2:105363482 [GRCh38]
Chr2:105979939 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.576G>A (p.Arg192=) single nucleotide variant Primary dilated cardiomyopathy [RCV000550274] Chr2:105363397 [GRCh38]
Chr2:105979854 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.819C>T (p.Pro273=) single nucleotide variant Primary dilated cardiomyopathy [RCV001521362]|not provided [RCV001719781]|not specified [RCV000041653] Chr2:105361304 [GRCh38]
Chr2:105977761 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.595C>T (p.Arg199Cys) single nucleotide variant Primary dilated cardiomyopathy [RCV001235807] Chr2:105363378 [GRCh38]
Chr2:105979835 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.595C>A (p.Arg199Ser) single nucleotide variant Cardiomyopathy [RCV000768815]|not specified [RCV000155865] Chr2:105363378 [GRCh38]
Chr2:105979835 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.675C>A (p.Thr225=) single nucleotide variant Primary dilated cardiomyopathy [RCV001434734] Chr2:105363298 [GRCh38]
Chr2:105979755 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.688+236A>G single nucleotide variant not provided [RCV001680300] Chr2:105363049 [GRCh38]
Chr2:105979506 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.689-2A>G single nucleotide variant Primary dilated cardiomyopathy [RCV001312282] Chr2:105361436 [GRCh38]
Chr2:105977893 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.157-3C>T single nucleotide variant Primary dilated cardiomyopathy [RCV002019464] Chr2:105373736 [GRCh38]
Chr2:105990193 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.501+17C>T single nucleotide variant Primary dilated cardiomyopathy [RCV002166717] Chr2:105367553 [GRCh38]
Chr2:105984010 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.559G>T (p.Val187Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV001885651] Chr2:105363414 [GRCh38]
Chr2:105979871 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.521T>C (p.Val174Ala) single nucleotide variant Primary dilated cardiomyopathy [RCV000704591] Chr2:105363452 [GRCh38]
Chr2:105979909 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.497A>G (p.Lys166Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV001898093] Chr2:105367574 [GRCh38]
Chr2:105984031 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.609C>T (p.Arg203=) single nucleotide variant Primary dilated cardiomyopathy [RCV002094434] Chr2:105363364 [GRCh38]
Chr2:105979821 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.644A>C (p.Asp215Ala) single nucleotide variant Primary dilated cardiomyopathy [RCV001889198] Chr2:105363329 [GRCh38]
Chr2:105979786 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.374C>A (p.Thr125Asn) single nucleotide variant Primary dilated cardiomyopathy [RCV000477413] Chr2:105367697 [GRCh38]
Chr2:105984154 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.671G>T (p.Cys224Phe) single nucleotide variant not specified [RCV000156413] Chr2:105363302 [GRCh38]
Chr2:105979759 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV002531672]|not specified [RCV000616222] Chr2:105373615 [GRCh38]
Chr2:105990072 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.742T>C (p.Cys248Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV002049133] Chr2:105361381 [GRCh38]
Chr2:105977838 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.540C>T (p.Pro180=) single nucleotide variant Primary dilated cardiomyopathy [RCV002196489] Chr2:105363433 [GRCh38]
Chr2:105979890 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.502-1G>C single nucleotide variant Primary dilated cardiomyopathy [RCV001925384] Chr2:105363472 [GRCh38]
Chr2:105979929 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.193T>C (p.Cys65Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV001886868] Chr2:105373697 [GRCh38]
Chr2:105990154 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.176G>A (p.Arg59Gln) single nucleotide variant Primary dilated cardiomyopathy [RCV001989710] Chr2:105373714 [GRCh38]
Chr2:105990171 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.207G>A (p.Ser69=) single nucleotide variant Cardiomyopathy [RCV001171211]|FHL2-related disorder [RCV003965150]|Primary dilated cardiomyopathy [RCV002056057]|not specified [RCV000154722] Chr2:105373683 [GRCh38]
Chr2:105990140 [GRCh37]
Chr2:2q12.2		 benign|likely benign
NM_001318895.3(FHL2):c.186T>C (p.His62=) single nucleotide variant Primary dilated cardiomyopathy [RCV001413477] Chr2:105373704 [GRCh38]
Chr2:105990161 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.521T>A (p.Val174Asp) single nucleotide variant Primary dilated cardiomyopathy [RCV001210028]|not specified [RCV004033786] Chr2:105363452 [GRCh38]
Chr2:105979909 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.721G>A (p.Glu241Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV001045969] Chr2:105361402 [GRCh38]
Chr2:105977859 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.284A>G (p.Asn95Ser) single nucleotide variant not specified [RCV000156619] Chr2:105373606 [GRCh38]
Chr2:105990063 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.823T>G (p.Cys275Gly) single nucleotide variant Primary dilated cardiomyopathy [RCV000157238] Chr2:105361300 [GRCh38]
Chr2:105977757 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.236C>T (p.Pro79Leu) single nucleotide variant not specified [RCV000208098] Chr2:105373654 [GRCh38]
Chr2:105990111 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.191C>G (p.Ala64Gly) single nucleotide variant Primary dilated cardiomyopathy [RCV000227762] Chr2:105373699 [GRCh38]
Chr2:105990156 [GRCh37]
Chr2:2q12.2		 likely pathogenic|uncertain significance
NM_001318895.3(FHL2):c.414C>A (p.Thr138=) single nucleotide variant Primary dilated cardiomyopathy [RCV001489585] Chr2:105367657 [GRCh38]
Chr2:105984114 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.533del (p.Glu178fs) deletion Primary dilated cardiomyopathy [RCV001339198] Chr2:105363440 [GRCh38]
Chr2:105979897 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.816C>T (p.Cys272=) single nucleotide variant Primary dilated cardiomyopathy [RCV002102342] Chr2:105361307 [GRCh38]
Chr2:105977764 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.759G>A (p.Lys253=) single nucleotide variant Primary dilated cardiomyopathy [RCV002118923] Chr2:105361364 [GRCh38]
Chr2:105977821 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.331+16T>C single nucleotide variant Primary dilated cardiomyopathy [RCV002122727]|not provided [RCV004710408] Chr2:105373543 [GRCh38]
Chr2:105990000 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.336C>T (p.Thr112=) single nucleotide variant Primary dilated cardiomyopathy [RCV002103406] Chr2:105367735 [GRCh38]
Chr2:105984192 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.688+11C>T single nucleotide variant Primary dilated cardiomyopathy [RCV002103895] Chr2:105363274 [GRCh38]
Chr2:105979731 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.689-225G>A single nucleotide variant not provided [RCV002285576] Chr2:105361659 [GRCh38]
Chr2:105978116 [GRCh37]
Chr2:2q12.2		 likely benign
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_001318895.3(FHL2):c.729G>C (p.Gln243His) single nucleotide variant Primary dilated cardiomyopathy [RCV002294806] Chr2:105361394 [GRCh38]
Chr2:105977851 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.501+8A>T single nucleotide variant Primary dilated cardiomyopathy [RCV002750163] Chr2:105367562 [GRCh38]
Chr2:105984019 [GRCh37]
Chr2:2q12.2		 likely benign
GRCh37/hg19 2q12.1-12.2(chr2:105918129-106005471)x1 copy number loss not provided [RCV002475639] Chr2:105918129..106005471 [GRCh37]
Chr2:2q12.1-12.2		 uncertain significance
NM_001318895.3(FHL2):c.756G>T (p.Lys252Asn) single nucleotide variant Primary dilated cardiomyopathy [RCV002815936] Chr2:105361367 [GRCh38]
Chr2:105977824 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.269C>T (p.Thr90Ile) single nucleotide variant Primary dilated cardiomyopathy [RCV002615136] Chr2:105373621 [GRCh38]
Chr2:105990078 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.502-13C>G single nucleotide variant Primary dilated cardiomyopathy [RCV002974969] Chr2:105363484 [GRCh38]
Chr2:105979941 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.501+16C>T single nucleotide variant Primary dilated cardiomyopathy [RCV002637944] Chr2:105367554 [GRCh38]
Chr2:105984011 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.502-10G>A single nucleotide variant Primary dilated cardiomyopathy [RCV003081798] Chr2:105363481 [GRCh38]
Chr2:105979938 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.218A>G (p.Asn73Ser) single nucleotide variant FHL2-related disorder [RCV003898897]|Primary dilated cardiomyopathy [RCV002640330] Chr2:105373672 [GRCh38]
Chr2:105990129 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.462T>G (p.Tyr154Ter) single nucleotide variant Primary dilated cardiomyopathy [RCV003078901]|not provided [RCV003491222] Chr2:105367609 [GRCh38]
Chr2:105984066 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.162G>T (p.Leu54Phe) single nucleotide variant Primary dilated cardiomyopathy [RCV002820327] Chr2:105373728 [GRCh38]
Chr2:105990185 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.698_699delinsAA (p.Gly233Glu) indel Primary dilated cardiomyopathy [RCV003079409] Chr2:105361424..105361425 [GRCh38]
Chr2:105977881..105977882 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.760T>C (p.Cys254Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV002780951] Chr2:105361363 [GRCh38]
Chr2:105977820 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.612T>C (p.Asp204=) single nucleotide variant Primary dilated cardiomyopathy [RCV003077264] Chr2:105363361 [GRCh38]
Chr2:105979818 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.805G>A (p.Asp269Asn) single nucleotide variant Primary dilated cardiomyopathy [RCV002917185] Chr2:105361318 [GRCh38]
Chr2:105977775 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.486C>T (p.Cys162=) single nucleotide variant Primary dilated cardiomyopathy [RCV002982943] Chr2:105367585 [GRCh38]
Chr2:105984042 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.243T>C (p.Ala81=) single nucleotide variant Primary dilated cardiomyopathy [RCV003007641] Chr2:105373647 [GRCh38]
Chr2:105990104 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.529C>T (p.Arg177Trp) single nucleotide variant Primary dilated cardiomyopathy [RCV003065422] Chr2:105363444 [GRCh38]
Chr2:105979901 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_024093.3(C2orf49):c.82C>T (p.Leu28Phe) single nucleotide variant not specified [RCV004075602] Chr2:105337669 [GRCh38]
Chr2:105954126 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_024093.3(C2orf49):c.10G>A (p.Asp4Asn) single nucleotide variant not specified [RCV004230275] Chr2:105337597 [GRCh38]
Chr2:105954054 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.208C>G (p.Gln70Glu) single nucleotide variant Primary dilated cardiomyopathy [RCV002628524] Chr2:105373682 [GRCh38]
Chr2:105990139 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.233A>G (p.Lys78Arg) single nucleotide variant not specified [RCV004153078] Chr2:105373657 [GRCh38]
Chr2:105990114 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.429C>T (p.Pro143=) single nucleotide variant Primary dilated cardiomyopathy [RCV002647024] Chr2:105367642 [GRCh38]
Chr2:105984099 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.191C>T (p.Ala64Val) single nucleotide variant Primary dilated cardiomyopathy [RCV003092731] Chr2:105373699 [GRCh38]
Chr2:105990156 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.245C>T (p.Ala82Val) single nucleotide variant not specified [RCV004230844] Chr2:105373645 [GRCh38]
Chr2:105990102 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.548A>G (p.Lys183Arg) single nucleotide variant not specified [RCV004278530] Chr2:105363425 [GRCh38]
Chr2:105979882 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.392G>T (p.Arg131Leu) single nucleotide variant not specified [RCV004272203] Chr2:105367679 [GRCh38]
Chr2:105984136 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.752G>C (p.Cys251Ser) single nucleotide variant Primary dilated cardiomyopathy [RCV003225261] Chr2:105361371 [GRCh38]
Chr2:105977828 [GRCh37]
Chr2:2q12.2		 uncertain significance
GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1 copy number loss not provided [RCV003484827] Chr2:101933587..106547126 [GRCh37]
Chr2:2q11.2-12.2		 uncertain significance
NM_024093.3(C2orf49):c.477T>C (p.Pro159=) single nucleotide variant not provided [RCV003436091] Chr2:105343058 [GRCh38]
Chr2:105959515 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.336C>G (p.Thr112=) single nucleotide variant Primary dilated cardiomyopathy [RCV003510895] Chr2:105367735 [GRCh38]
Chr2:105984192 [GRCh37]
Chr2:2q12.2		 benign
NM_001318895.3(FHL2):c.254A>G (p.Asp85Gly) single nucleotide variant Primary dilated cardiomyopathy [RCV003511023] Chr2:105373636 [GRCh38]
Chr2:105990093 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.331+6G>A single nucleotide variant Primary dilated cardiomyopathy [RCV003880712] Chr2:105373553 [GRCh38]
Chr2:105990010 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.502-12T>C single nucleotide variant Primary dilated cardiomyopathy [RCV003510200] Chr2:105363483 [GRCh38]
Chr2:105979940 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.311G>A (p.Cys104Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV003510249] Chr2:105373579 [GRCh38]
Chr2:105990036 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.235_249del (p.Pro79_Lys83del) deletion Primary dilated cardiomyopathy [RCV003510522] Chr2:105373641..105373655 [GRCh38]
Chr2:105990098..105990112 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.794C>G (p.Thr265Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV003509171] Chr2:105361329 [GRCh38]
Chr2:105977786 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.501+5C>G single nucleotide variant Primary dilated cardiomyopathy [RCV003511061] Chr2:105367565 [GRCh38]
Chr2:105984022 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.338G>T (p.Arg113Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV003511115] Chr2:105367733 [GRCh38]
Chr2:105984190 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.332-11_332-3del deletion Primary dilated cardiomyopathy [RCV003509101] Chr2:105367742..105367750 [GRCh38]
Chr2:105984199..105984207 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.278A>T (p.Tyr93Phe) single nucleotide variant Primary dilated cardiomyopathy [RCV003510201] Chr2:105373612 [GRCh38]
Chr2:105990069 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.270A>G (p.Thr90=) single nucleotide variant Primary dilated cardiomyopathy [RCV003620338] Chr2:105373620 [GRCh38]
Chr2:105990077 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.210G>T (p.Gln70His) single nucleotide variant Primary dilated cardiomyopathy [RCV003620677] Chr2:105373680 [GRCh38]
Chr2:105990137 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.738C>G (p.Asn246Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV003620082] Chr2:105361385 [GRCh38]
Chr2:105977842 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.331+10C>A single nucleotide variant Primary dilated cardiomyopathy [RCV003620861] Chr2:105373549 [GRCh38]
Chr2:105990006 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.574A>G (p.Arg192Gly) single nucleotide variant Primary dilated cardiomyopathy [RCV003620884] Chr2:105363399 [GRCh38]
Chr2:105979856 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.157-9G>A single nucleotide variant Primary dilated cardiomyopathy [RCV003619335] Chr2:105373742 [GRCh38]
Chr2:105990199 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.687C>T (p.Ser229=) single nucleotide variant Primary dilated cardiomyopathy [RCV003620419] Chr2:105363286 [GRCh38]
Chr2:105979743 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.513G>C (p.Thr171=) single nucleotide variant Primary dilated cardiomyopathy [RCV003620181] Chr2:105363460 [GRCh38]
Chr2:105979917 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.235C>G (p.Pro79Ala) single nucleotide variant Primary dilated cardiomyopathy [RCV003619608] Chr2:105373655 [GRCh38]
Chr2:105990112 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.596G>A (p.Arg199His) single nucleotide variant Primary dilated cardiomyopathy [RCV003814706] Chr2:105363377 [GRCh38]
Chr2:105979834 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.414C>T (p.Thr138=) single nucleotide variant Primary dilated cardiomyopathy [RCV003621184] Chr2:105367657 [GRCh38]
Chr2:105984114 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.501+6T>C single nucleotide variant Primary dilated cardiomyopathy [RCV003621032] Chr2:105367564 [GRCh38]
Chr2:105984021 [GRCh37]
Chr2:2q12.2		 uncertain significance
GRCh37/hg19 2q12.1-12.2(chr2:105674582-106762678)x1 copy number loss not specified [RCV003986360] Chr2:105674582..106762678 [GRCh37]
Chr2:2q12.1-12.2		 uncertain significance
NM_001318895.3(FHL2):c.566_593del (p.Thr189fs) deletion Primary dilated cardiomyopathy [RCV003621008] Chr2:105363380..105363407 [GRCh38]
Chr2:105979837..105979864 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.332-14G>T single nucleotide variant Primary dilated cardiomyopathy [RCV003859208] Chr2:105367753 [GRCh38]
Chr2:105984210 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.655A>C (p.Lys219Gln) single nucleotide variant Primary dilated cardiomyopathy [RCV003621318] Chr2:105363318 [GRCh38]
Chr2:105979775 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.492G>C (p.Gln164His) single nucleotide variant not specified [RCV004386406] Chr2:105367579 [GRCh38]
Chr2:105984036 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.259C>A (p.Leu87Met) single nucleotide variant not specified [RCV004386404] Chr2:105373631 [GRCh38]
Chr2:105990088 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.584T>C (p.Leu195Pro) single nucleotide variant not specified [RCV004386408] Chr2:105363389 [GRCh38]
Chr2:105979846 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.732G>T (p.Trp244Cys) single nucleotide variant not specified [RCV004623458] Chr2:105361391 [GRCh38]
Chr2:105977848 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.558C>T (p.Phe186=) single nucleotide variant FHL2-related disorder [RCV004731784]|Primary dilated cardiomyopathy [RCV005103623] Chr2:105363415 [GRCh38]
Chr2:105979872 [GRCh37]
Chr2:2q12.2		 likely benign|uncertain significance
GRCh37/hg19 2q12.1-12.2(chr2:105798335-107106799)x1 copy number loss not provided [RCV004819732] Chr2:105798335..107106799 [GRCh37]
Chr2:2q12.1-12.2		 uncertain significance
NM_001318895.3(FHL2):c.629T>C (p.Leu210Pro) single nucleotide variant Primary dilated cardiomyopathy [RCV005120317] Chr2:105363344 [GRCh38]
Chr2:105979801 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.501+20G>C single nucleotide variant Primary dilated cardiomyopathy [RCV005126307] Chr2:105367550 [GRCh38]
Chr2:105984007 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.536A>G (p.Gln179Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV005143026] Chr2:105363437 [GRCh38]
Chr2:105979894 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.332-11C>T single nucleotide variant Primary dilated cardiomyopathy [RCV005139552] Chr2:105367750 [GRCh38]
Chr2:105984207 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.322A>C (p.Ile108Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV005085009] Chr2:105373568 [GRCh38]
Chr2:105990025 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.206C>T (p.Ser69Leu) single nucleotide variant not specified [RCV004924037] Chr2:105373684 [GRCh38]
Chr2:105990141 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.565A>C (p.Thr189Pro) single nucleotide variant Primary dilated cardiomyopathy [RCV005122444] Chr2:105363408 [GRCh38]
Chr2:105979865 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.640T>A (p.Cys214Ser) single nucleotide variant not specified [RCV004924035] Chr2:105363333 [GRCh38]
Chr2:105979790 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.284A>T (p.Asn95Ile) single nucleotide variant not specified [RCV004924036] Chr2:105373606 [GRCh38]
Chr2:105990063 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.266G>A (p.Cys89Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV005176152] Chr2:105373624 [GRCh38]
Chr2:105990081 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.567C>T (p.Thr189=) single nucleotide variant Primary dilated cardiomyopathy [RCV005194579] Chr2:105363406 [GRCh38]
Chr2:105979863 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.515G>A (p.Gly172Glu) single nucleotide variant Primary dilated cardiomyopathy [RCV005172966] Chr2:105363458 [GRCh38]
Chr2:105979915 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.157-8C>T single nucleotide variant Primary dilated cardiomyopathy [RCV005076627] Chr2:105373741 [GRCh38]
Chr2:105990198 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.354G>A (p.Lys118=) single nucleotide variant Primary dilated cardiomyopathy [RCV005164570] Chr2:105367717 [GRCh38]
Chr2:105984174 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.485G>T (p.Cys162Phe) single nucleotide variant Primary dilated cardiomyopathy [RCV005151316] Chr2:105367586 [GRCh38]
Chr2:105984043 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.525T>C (p.Thr175=) single nucleotide variant Primary dilated cardiomyopathy [RCV005168885] Chr2:105363448 [GRCh38]
Chr2:105979905 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.502-13C>T single nucleotide variant Primary dilated cardiomyopathy [RCV005081903] Chr2:105363484 [GRCh38]
Chr2:105979941 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.236C>G (p.Pro79Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV005146940] Chr2:105373654 [GRCh38]
Chr2:105990111 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.780del (p.Arg261fs) deletion Primary dilated cardiomyopathy [RCV005176518] Chr2:105361343 [GRCh38]
Chr2:105977800 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.252G>A (p.Glu84=) single nucleotide variant Primary dilated cardiomyopathy [RCV005191975] Chr2:105373638 [GRCh38]
Chr2:105990095 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.808A>G (p.Ile270Val) single nucleotide variant Primary dilated cardiomyopathy [RCV005184402] Chr2:105361315 [GRCh38]
Chr2:105977772 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.482A>T (p.Gln161Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV005151067] Chr2:105367589 [GRCh38]
Chr2:105984046 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.711C>A (p.Ile237=) single nucleotide variant Primary dilated cardiomyopathy [RCV005192551] Chr2:105361412 [GRCh38]
Chr2:105977869 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.805G>T (p.Asp269Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV005193177] Chr2:105361318 [GRCh38]
Chr2:105977775 [GRCh37]
Chr2:2q12.2		 uncertain significance
NM_001318895.3(FHL2):c.594G>A (p.Gln198=) single nucleotide variant Primary dilated cardiomyopathy [RCV005156593] Chr2:105363379 [GRCh38]
Chr2:105979836 [GRCh37]
Chr2:2q12.2		 likely benign
NM_001318895.3(FHL2):c.332-6T>C single nucleotide variant Primary dilated cardiomyopathy [RCV005144138] Chr2:105367745 [GRCh38]
Chr2:105984202 [GRCh37]
Chr2:2q12.2		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1706
Count of miRNA genes:815
Interacting mature miRNAs:967
Transcripts:ENST00000258457, ENST00000410049, ENST00000437250
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597215640GWAS1311714_Hsmoking status measurement QTL GWAS1311714 (human)4e-09smoking status measurement2105354559105354560Human
597320474GWAS1416548_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1416548 (human)8e-11diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)2105377402105377403Human
597179225GWAS1275299_Hsmoking initiation QTL GWAS1275299 (human)4e-21smoking initiation2105352905105352906Human
597028148GWAS1124222_Hbody mass index QTL GWAS1124222 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)2105361319105361320Human
597051890GWAS1147964_Hsmoking status measurement QTL GWAS1147964 (human)5e-10smoking status measurement2105352905105352906Human
596975507GWAS1095026_Hbody height QTL GWAS1095026 (human)1e-14body height2105373259105373260Human
597318291GWAS1414365_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1414365 (human)0.000004diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)2105377402105377403Human
597206216GWAS1302290_Hprotein measurement QTL GWAS1302290 (human)5e-09protein measurement2105356819105356820Human
1298432OSTEAR10_HOsteoarthritis QTL 10 (human)2.340.0001Joint/bone inflammationdistal interphalangeal joint osteoarthritis297592766106657498Human
597030726GWAS1126800_Htobacco smoke exposure measurement QTL GWAS1126800 (human)2e-09tobacco smoke exposure measurement2105352905105352906Human
597349359GWAS1445433_Hbody mass index QTL GWAS1445433 (human)9e-10body mass indexbody mass index (BMI) (CMO:0000105)2105345882105345883Human
597318191GWAS1414265_Hsmoking initiation QTL GWAS1414265 (human)2e-19smoking initiation2105356637105356638Human
597225935GWAS1322009_Hself reported educational attainment QTL GWAS1322009 (human)3e-13self reported educational attainment2105354559105354560Human
597232910GWAS1328984_Happendicular lean mass QTL GWAS1328984 (human)4e-11appendicular lean mass2105373259105373260Human
597228576GWAS1324650_Hself reported educational attainment QTL GWAS1324650 (human)2e-12self reported educational attainment2105352905105352906Human
597329282GWAS1425356_Hbody mass index QTL GWAS1425356 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)2105361319105361320Human
407003000GWAS651976_Hbody mass index QTL GWAS651976 (human)5e-09body mass indexbody mass index (BMI) (CMO:0000105)2105361319105361320Human
597170946GWAS1267020_Hcigarettes per day measurement QTL GWAS1267020 (human)5e-08cigarettes per day measurement2105361319105361320Human
597053389GWAS1149463_Hhousehold income QTL GWAS1149463 (human)7e-09household income2105361319105361320Human
597284485GWAS1380559_HBMI-adjusted hip circumference QTL GWAS1380559 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)2105382552105382553Human

Markers in Region
RH26023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372105,963,922 - 105,964,093UniSTSGRCh37
Build 362105,330,354 - 105,330,525RGDNCBI36
Celera2100,164,369 - 100,164,540RGD
Cytogenetic Map2q12.1UniSTS
HuRef299,732,412 - 99,732,583UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007081585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007081586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ003369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000258457   ⟹   ENSP00000258457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2105,337,540 - 105,349,211 (+)Ensembl
Ensembl Acc Id: ENST00000410049   ⟹   ENSP00000386361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2105,337,532 - 105,345,596 (+)Ensembl
Ensembl Acc Id: ENST00000718457   ⟹   ENSP00000520835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2105,337,538 - 105,350,712 (+)Ensembl
RefSeq Acc Id: NM_001286537   ⟹   NP_001273466
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,349,211 (+)NCBI
HuRef299,722,305 - 99,733,761 (+)NCBI
CHM1_12105,958,123 - 105,969,580 (+)NCBI
T2T-CHM13v2.02105,798,730 - 105,810,388 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024093   ⟹   NP_076998
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,349,211 (+)NCBI
GRCh372105,953,714 - 105,976,514 (+)NCBI
Build 362105,320,445 - 105,328,416 (+)NCBI Archive
Celera2100,154,460 - 100,162,431 (+)RGD
HuRef299,722,305 - 99,733,761 (+)NCBI
CHM1_12105,958,123 - 105,969,580 (+)NCBI
T2T-CHM13v2.02105,798,730 - 105,810,388 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004892   ⟹   XP_016860381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,360,777 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453135   ⟹   XP_024308903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,349,573 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453136   ⟹   XP_024308904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,349,573 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445805   ⟹   XP_047301761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,360,777 (+)NCBI
RefSeq Acc Id: XM_054343847   ⟹   XP_054199822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02105,798,730 - 105,821,950 (+)NCBI
RefSeq Acc Id: XM_054343848   ⟹   XP_054199823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02105,798,730 - 105,821,950 (+)NCBI
RefSeq Acc Id: XM_054343849   ⟹   XP_054199824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02105,798,730 - 105,821,950 (+)NCBI
RefSeq Acc Id: XM_054343850   ⟹   XP_054199825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02105,798,730 - 105,821,950 (+)NCBI
RefSeq Acc Id: XR_007081585
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,385,899 (+)NCBI
RefSeq Acc Id: XR_007081586
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,540 - 105,385,899 (+)NCBI
RefSeq Acc Id: XR_008486513
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02105,798,730 - 105,846,677 (+)NCBI
RefSeq Acc Id: XR_008486514
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02105,798,730 - 105,846,677 (+)NCBI
RefSeq Acc Id: NP_076998   ⟸   NM_024093
- Peptide Label: isoform 1
- UniProtKB: B3KXN3 (UniProtKB/Swiss-Prot),   B4E2G9 (UniProtKB/Swiss-Prot),   Q9BVC5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273466   ⟸   NM_001286537
- Peptide Label: isoform 2
- UniProtKB: C9J4K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860381   ⟸   XM_017004892
- Peptide Label: isoform X2
- UniProtKB: C9J4K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308904   ⟸   XM_024453136
- Peptide Label: isoform X2
- UniProtKB: C9J4K0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308903   ⟸   XM_024453135
- Peptide Label: isoform X1
- UniProtKB: Q9BVC5 (UniProtKB/Swiss-Prot),   B3KXN3 (UniProtKB/Swiss-Prot),   B4E2G9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000386361   ⟸   ENST00000410049
Ensembl Acc Id: ENSP00000258457   ⟸   ENST00000258457
RefSeq Acc Id: XP_047301761   ⟸   XM_047445805
- Peptide Label: isoform X1
- UniProtKB: Q9BVC5 (UniProtKB/Swiss-Prot),   B3KXN3 (UniProtKB/Swiss-Prot),   B4E2G9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054199822   ⟸   XM_054343847
- Peptide Label: isoform X1
- UniProtKB: Q9BVC5 (UniProtKB/Swiss-Prot),   B3KXN3 (UniProtKB/Swiss-Prot),   B4E2G9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054199823   ⟸   XM_054343848
- Peptide Label: isoform X1
- UniProtKB: Q9BVC5 (UniProtKB/Swiss-Prot),   B3KXN3 (UniProtKB/Swiss-Prot),   B4E2G9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054199825   ⟸   XM_054343850
- Peptide Label: isoform X2
- UniProtKB: C9J4K0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199824   ⟸   XM_054343849
- Peptide Label: isoform X2
- UniProtKB: C9J4K0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000520835   ⟸   ENST00000718457

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BVC5-F1-model_v2 AlphaFold Q9BVC5 1-232 view protein structure

Promoters
RGD ID:6796891
Promoter ID:HG_KWN:34265
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000410049,   OTTHUMT00000253353
Position:
Human AssemblyChrPosition (strand)Source
Build 362105,320,056 - 105,320,556 (+)MPROMDB
RGD ID:6861238
Promoter ID:EPDNEW_H3783
Type:initiation region
Name:C2orf49_1
Description:chromosome 2 open reading frame 49
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382105,337,554 - 105,337,614EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28772 AgrOrtholog
COSMIC C2orf49 COSMIC
Ensembl Genes ENSG00000135974 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258457 ENTREZGENE
  ENST00000258457.7 UniProtKB/Swiss-Prot
  ENST00000410049 ENTREZGENE
  ENST00000410049.1 UniProtKB/TrEMBL
  ENST00000718457 ENTREZGENE
GTEx ENSG00000135974 GTEx
HGNC ID HGNC:28772 ENTREZGENE
Human Proteome Map C2orf49 Human Proteome Map
InterPro Ashwin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79074 UniProtKB/Swiss-Prot
NCBI Gene 79074 ENTREZGENE
PANTHER ASHWIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ashwin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162379179 PharmGKB
UniProt ASHWN_HUMAN UniProtKB/Swiss-Prot
  B3KXN3 ENTREZGENE
  B4E2G9 ENTREZGENE
  C9J4K0 ENTREZGENE, UniProtKB/TrEMBL
  Q9BVC5 ENTREZGENE
UniProt Secondary B3KXN3 UniProtKB/Swiss-Prot
  B4E2G9 UniProtKB/Swiss-Prot