Canonical Allele Identifier: CA384540216

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48371143G>T (hg19) ; chr12:g.47977360G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977360G>T , CM000674.2:g.47977360G>T	GRCh38
NC_000012.11:g.48371143G>T , CM000674.1:g.48371143G>T	GRCh37
NC_000012.10:g.46657410G>T	NCBI36
NG_008072.1:g.32143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3026C>A	ENSP00000338213.6:p.Pro1009His
ENST00000380518.8:c.3233C>A MANE Select	ENSP00000369889.3:p.Pro1078His
ENST00000337299.6:c.3026C>A	ENSP00000338213.6:p.Pro1009His
ENST00000380518.7:c.3233C>A	ENSP00000369889.3:p.Pro1078His
ENST00000493991.5:n.2319C>A
ENST00000546974.1:n.86C>A
NM_001844.4:c.3233C>A	NP_001835.3:p.Pro1078His
NM_033150.2:c.3026C>A	NP_149162.2:p.Pro1009His
XM_006719242.2:c.3377C>A	XP_006719305.2:p.Pro1126His
XM_011537928.1:c.3377C>A	XP_011536230.1:p.Pro1126His
XM_011537929.1:c.3377C>A	XP_011536231.1:p.Pro1126His
XM_011537930.1:c.3377C>A	XP_011536232.1:p.Pro1126His
XM_011537931.1:c.3377C>A	XP_011536233.1:p.Pro1126His
XM_011537932.1:c.3377C>A	XP_011536234.1:p.Pro1126His
XM_011537933.1:c.3377C>A	XP_011536235.1:p.Pro1126His
XM_011537934.1:c.3374C>A	XP_011536236.1:p.Pro1125His
XM_011537935.1:c.2321C>A	XP_011536237.1:p.Pro774His
XM_017018828.1:c.3377C>A	XP_016874317.1:p.Pro1126His
XM_017018829.1:c.3374C>A	XP_016874318.1:p.Pro1125His
XM_017018830.1:c.3167C>A	XP_016874319.1:p.Pro1056His
XM_017018831.2:c.2687C>A	XP_016874320.1:p.Pro896His
NM_001844.5:c.3233C>A MANE Select	NP_001835.3:p.Pro1078His
NM_033150.3:c.3026C>A	NP_149162.2:p.Pro1009His