Canonical Allele Identifier: CA1315425012

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050570G= , CM000664.2:g.189050570G=	GRCh38
NC_000002.11:g.189915296G= , CM000664.1:g.189915296G=	GRCh37
NC_000002.10:g.189623541G=	NCBI36
NG_011799.1:g.134310C=
NG_011799.2:g.134310C=
NG_011799.3:g.179732C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3038C= MANE Select	ENSP00000364000.3:p.Ala1013=
ENST00000374866.7:c.3038C=	ENSP00000364000.3:p.Ala1013=
ENST00000618828.1:c.1877C=	ENSP00000482184.1:p.Ala626=
NM_000393.3:c.3038C=	NP_000384.2:p.Ala1013=
XM_011510573.1:c.2900C=	XP_011508875.1:p.Ala967=
NM_000393.4:c.3038C=	NP_000384.2:p.Ala1013=
XM_011510573.3:c.2900C=	XP_011508875.1:p.Ala967=
NM_000393.5:c.3038C= MANE Select	NP_000384.2:p.Ala1013=