Canonical Allele Identifier: CA250676
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17366
ClinVar RCV Id: RCV000018910 RCV000478360 RCV000762895 RCV000995718
dbSNP Id: rs121912874
gnomAD v4: 12-47978329-G-A
MyVariant Identifiers: chr12:g.48372112G>A (hg19) chr12:g.47978329G>A (hg38)
PubMed: PMID:7752132 PMID:8325895 PMID:9101290
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978329G>A , CM000674.2:g.47978329G>A GRCh38
NC_000012.11:g.48372112G>A , CM000674.1:g.48372112G>A GRCh37
NC_000012.10:g.46658379G>A NCBI36
NG_008072.1:g.31174C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.2758C>T ENSP00000338213.6:p.Arg920Cys
ENST00000380518.8:c.2965C>T MANE Select ENSP00000369889.3:p.Arg989Cys
ENST00000337299.6:c.2758C>T ENSP00000338213.6:p.Arg920Cys
ENST00000380518.7:c.2965C>T ENSP00000369889.3:p.Arg989Cys
ENST00000493991.5:n.2051C>T
NM_001844.4:c.2965C>T NP_001835.3:p.Arg989Cys
NM_033150.2:c.2758C>T NP_149162.2:p.Arg920Cys
XM_006719242.2:c.3109C>T XP_006719305.2:p.Arg1037Cys
XM_011537928.1:c.3109C>T XP_011536230.1:p.Arg1037Cys
XM_011537929.1:c.3109C>T XP_011536231.1:p.Arg1037Cys
XM_011537930.1:c.3109C>T XP_011536232.1:p.Arg1037Cys
XM_011537931.1:c.3109C>T XP_011536233.1:p.Arg1037Cys
XM_011537932.1:c.3109C>T XP_011536234.1:p.Arg1037Cys
XM_011537933.1:c.3109C>T XP_011536235.1:p.Arg1037Cys
XM_011537934.1:c.3106C>T XP_011536236.1:p.Arg1036Cys
XM_011537935.1:c.2053C>T XP_011536237.1:p.Arg685Cys
XM_017018828.1:c.3109C>T XP_016874317.1:p.Arg1037Cys
XM_017018829.1:c.3106C>T XP_016874318.1:p.Arg1036Cys
XM_017018830.1:c.2899C>T XP_016874319.1:p.Arg967Cys
XM_017018831.2:c.2419C>T XP_016874320.1:p.Arg807Cys
NM_001844.5:c.2965C>T MANE Select NP_001835.3:p.Arg989Cys
NM_033150.3:c.2758C>T NP_149162.2:p.Arg920Cys
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