Canonical Allele Identifier: CA1315425021

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050591A= , CM000664.2:g.189050591A=	GRCh38
NC_000002.11:g.189915317A= , CM000664.1:g.189915317A=	GRCh37
NC_000002.10:g.189623562A=	NCBI36
NG_011799.1:g.134289T=
NG_011799.2:g.134289T=
NG_011799.3:g.179711T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3017T= MANE Select	ENSP00000364000.3:p.Met1006=
ENST00000374866.7:c.3017T=	ENSP00000364000.3:p.Met1006=
ENST00000618828.1:c.1856T=	ENSP00000482184.1:p.Met619=
NM_000393.3:c.3017T=	NP_000384.2:p.Met1006=
XM_011510573.1:c.2879T=	XP_011508875.1:p.Met960=
NM_000393.4:c.3017T=	NP_000384.2:p.Met1006=
XM_011510573.3:c.2879T=	XP_011508875.1:p.Met960=
NM_000393.5:c.3017T= MANE Select	NP_000384.2:p.Met1006=