Canonical Allele Identifier: CA384551498

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1514889
• ClinVar RCV Id: RCV002048374
• dbSNP Id: rs186233557
• gnomAD v2: 12-48379542-C-T
• gnomAD v3: 12-47985759-C-T
• gnomAD v4: 12-47985759-C-T
• MyVariant Identifiers: chr12:g.48379542C>T (hg19) ; chr12:g.47985759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985759C>T , CM000674.2:g.47985759C>T	GRCh38
NC_000012.11:g.48379542C>T , CM000674.1:g.48379542C>T	GRCh37
NC_000012.10:g.46665809C>T	NCBI36
NG_008072.1:g.23744G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1442G>A	ENSP00000338213.6:p.Arg481His
ENST00000380518.8:c.1649G>A MANE Select	ENSP00000369889.3:p.Arg550His
ENST00000337299.6:c.1442G>A	ENSP00000338213.6:p.Arg481His
ENST00000380518.7:c.1649G>A	ENSP00000369889.3:p.Arg550His
ENST00000493991.5:n.573G>A
NM_001844.4:c.1649G>A	NP_001835.3:p.Arg550His
NM_033150.2:c.1442G>A	NP_149162.2:p.Arg481His
XM_006719242.2:c.1793G>A	XP_006719305.2:p.Arg598His
XM_011537928.1:c.1793G>A	XP_011536230.1:p.Arg598His
XM_011537929.1:c.1793G>A	XP_011536231.1:p.Arg598His
XM_011537930.1:c.1793G>A	XP_011536232.1:p.Arg598His
XM_011537931.1:c.1793G>A	XP_011536233.1:p.Arg598His
XM_011537932.1:c.1793G>A	XP_011536234.1:p.Arg598His
XM_011537933.1:c.1793G>A	XP_011536235.1:p.Arg598His
XM_011537934.1:c.1790G>A	XP_011536236.1:p.Arg597His
XM_011537935.1:c.737G>A	XP_011536237.1:p.Arg246His
XM_017018828.1:c.1793G>A	XP_016874317.1:p.Arg598His
XM_017018829.1:c.1790G>A	XP_016874318.1:p.Arg597His
XM_017018830.1:c.1583G>A	XP_016874319.1:p.Arg528His
XM_017018831.2:c.1103G>A	XP_016874320.1:p.Arg368His
NM_001844.5:c.1649G>A MANE Select	NP_001835.3:p.Arg550His
NM_033150.3:c.1442G>A	NP_149162.2:p.Arg481His