Canonical Allele Identifier: CA127158

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17368
• ClinVar RCV Id: RCV000018912 ; RCV001385337 ; RCV000988828 ; RCV003323361 ; RCV003228897
• dbSNP Id: rs121912876
• MyVariant Identifiers: chr12:g.48387824G>A (hg19) ; chr12:g.47994041G>A (hg38)
• PubMed: PMID:8024616 ; PMID:8244341 ; PMID:17726487 ; PMID:19764028

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