Canonical Allele Identifier: CA479453948

Gene: COL2A1

Linked Data

• dbSNP Id: rs1207343311
• gnomAD v3: 12-47977392-A-C
• gnomAD v4: 12-47977392-A-C
• MyVariant Identifiers: chr12:g.48371175A>C (hg19) ; chr12:g.47977392A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977392A>C , CM000674.2:g.47977392A>C	GRCh38
NC_000012.11:g.48371175A>C , CM000674.1:g.48371175A>C	GRCh37
NC_000012.10:g.46657442A>C	NCBI36
NG_008072.1:g.32111T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2994T>G	ENSP00000338213.6:p.Pro998=
ENST00000380518.8:c.3201T>G MANE Select	ENSP00000369889.3:p.Pro1067=
ENST00000337299.6:c.2994T>G	ENSP00000338213.6:p.Pro998=
ENST00000380518.7:c.3201T>G	ENSP00000369889.3:p.Pro1067=
ENST00000493991.5:n.2287T>G
ENST00000546974.1:n.54T>G
NM_001844.4:c.3201T>G	NP_001835.3:p.Pro1067=
NM_033150.2:c.2994T>G	NP_149162.2:p.Pro998=
XM_006719242.2:c.3345T>G	XP_006719305.2:p.Pro1115=
XM_011537928.1:c.3345T>G	XP_011536230.1:p.Pro1115=
XM_011537929.1:c.3345T>G	XP_011536231.1:p.Pro1115=
XM_011537930.1:c.3345T>G	XP_011536232.1:p.Pro1115=
XM_011537931.1:c.3345T>G	XP_011536233.1:p.Pro1115=
XM_011537932.1:c.3345T>G	XP_011536234.1:p.Pro1115=
XM_011537933.1:c.3345T>G	XP_011536235.1:p.Pro1115=
XM_011537934.1:c.3342T>G	XP_011536236.1:p.Pro1114=
XM_011537935.1:c.2289T>G	XP_011536237.1:p.Pro763=
XM_017018828.1:c.3345T>G	XP_016874317.1:p.Pro1115=
XM_017018829.1:c.3342T>G	XP_016874318.1:p.Pro1114=
XM_017018830.1:c.3135T>G	XP_016874319.1:p.Pro1045=
XM_017018831.2:c.2655T>G	XP_016874320.1:p.Pro885=
NM_001844.5:c.3201T>G MANE Select	NP_001835.3:p.Pro1067=
NM_033150.3:c.2994T>G	NP_149162.2:p.Pro998=