Canonical Allele Identifier: CA1315430380

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062966A= , CM000664.2:g.189062966A=	GRCh38
NC_000002.11:g.189927692A= , CM000664.1:g.189927692A=	GRCh37
NC_000002.10:g.189635937A=	NCBI36
NG_011799.1:g.121914T=
NG_011799.2:g.121914T=
NG_011799.3:g.167336T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1923+44T= MANE Select	ENSP00000364000.3:n.1923+44T=
ENST00000374866.7:c.1923+44T=	ENSP00000364000.3:n.1923+44T=
ENST00000470524.2:n.29+44T=
ENST00000618828.1:c.762+44T=	ENSP00000482184.1:n.762+44T=
NM_000393.3:c.1923+44T=	NP_000384.2:n.1923+44T=
XM_011510573.1:c.1785+44T=	XP_011508875.1:n.1785+44T=
NM_000393.4:c.1923+44T=	NP_000384.2:n.1923+44T=
XM_011510573.3:c.1785+44T=	XP_011508875.1:n.1785+44T=
NM_000393.5:c.1923+44T= MANE Select	NP_000384.2:n.1923+44T=