Canonical Allele Identifier: CA127158
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17368
ClinVar RCV Id: RCV000018912 RCV000988828 RCV001385337
dbSNP Id: rs121912876
MyVariant Identifiers: chr12:g.48387824G>A (hg19) chr12:g.47994041G>A (hg38)
PubMed: PMID:8024616 PMID:8244341 PMID:17726487 PMID:19764028
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47994041G>A , CM000674.2:g.47994041G>A GRCh38
NC_000012.11:g.48387824G>A , CM000674.1:g.48387824G>A GRCh37
NC_000012.10:g.46674091G>A NCBI36
NG_008072.1:g.15462C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.616C>T ENSP00000338213.6:p.Arg206Cys
ENST00000380518.8:c.823C>T MANE Select ENSP00000369889.3:p.Arg275Cys
ENST00000337299.6:c.616C>T ENSP00000338213.6:p.Arg206Cys
ENST00000380518.7:c.823C>T ENSP00000369889.3:p.Arg275Cys
NM_001844.4:c.823C>T NP_001835.3:p.Arg275Cys
NM_033150.2:c.616C>T NP_149162.2:p.Arg206Cys
XM_006719242.2:c.967C>T XP_006719305.2:p.Arg323Cys
XM_011537928.1:c.967C>T XP_011536230.1:p.Arg323Cys
XM_011537929.1:c.967C>T XP_011536231.1:p.Arg323Cys
XM_011537930.1:c.967C>T XP_011536232.1:p.Arg323Cys
XM_011537931.1:c.967C>T XP_011536233.1:p.Arg323Cys
XM_011537932.1:c.967C>T XP_011536234.1:p.Arg323Cys
XM_011537933.1:c.967C>T XP_011536235.1:p.Arg323Cys
XM_011537934.1:c.964C>T XP_011536236.1:p.Arg322Cys
XM_017018828.1:c.967C>T XP_016874317.1:p.Arg323Cys
XM_017018829.1:c.964C>T XP_016874318.1:p.Arg322Cys
XM_017018830.1:c.757C>T XP_016874319.1:p.Arg253Cys
XM_017018831.2:c.277C>T XP_016874320.1:p.Arg93Cys
NM_001844.5:c.823C>T MANE Select NP_001835.3:p.Arg275Cys
NM_033150.3:c.616C>T NP_149162.2:p.Arg206Cys
Search 100 bp 5'
Search 100 bp 3'