Canonical Allele Identifier: CA281739

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17355
• ClinVar RCV Id: RCV000018899 ; RCV000726311
• dbSNP Id: rs121912866
• gnomAD v4: 12-47978698-G-A
• MyVariant Identifiers: chr12:g.48372481G>A (hg19) ; chr12:g.47978698G>A (hg38)
• PubMed: PMID:1677770 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978698G>A , CM000674.2:g.47978698G>A	GRCh38
NC_000012.11:g.48372481G>A , CM000674.1:g.48372481G>A	GRCh37
NC_000012.10:g.46658748G>A	NCBI36
NG_008072.1:g.30805C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2587C>T	ENSP00000338213.6:p.Arg863Ter
ENST00000380518.8:c.2794C>T MANE Select	ENSP00000369889.3:p.Arg932Ter
ENST00000337299.6:c.2587C>T	ENSP00000338213.6:p.Arg863Ter
ENST00000380518.7:c.2794C>T	ENSP00000369889.3:p.Arg932Ter
ENST00000493991.5:n.1880C>T
NM_001844.4:c.2794C>T	NP_001835.3:p.Arg932Ter
NM_033150.2:c.2587C>T	NP_149162.2:p.Arg863Ter
XM_006719242.2:c.2938C>T	XP_006719305.2:p.Arg980Ter
XM_011537928.1:c.2938C>T	XP_011536230.1:p.Arg980Ter
XM_011537929.1:c.2938C>T	XP_011536231.1:p.Arg980Ter
XM_011537930.1:c.2938C>T	XP_011536232.1:p.Arg980Ter
XM_011537931.1:c.2938C>T	XP_011536233.1:p.Arg980Ter
XM_011537932.1:c.2938C>T	XP_011536234.1:p.Arg980Ter
XM_011537933.1:c.2938C>T	XP_011536235.1:p.Arg980Ter
XM_011537934.1:c.2935C>T	XP_011536236.1:p.Arg979Ter
XM_011537935.1:c.1882C>T	XP_011536237.1:p.Arg628Ter
XM_017018828.1:c.2938C>T	XP_016874317.1:p.Arg980Ter
XM_017018829.1:c.2935C>T	XP_016874318.1:p.Arg979Ter
XM_017018830.1:c.2728C>T	XP_016874319.1:p.Arg910Ter
XM_017018831.2:c.2248C>T	XP_016874320.1:p.Arg750Ter
NM_001844.5:c.2794C>T MANE Select	NP_001835.3:p.Arg932Ter
NM_033150.3:c.2587C>T	NP_149162.2:p.Arg863Ter