Canonical Allele Identifier: CA1315422601

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035119T= , CM000664.2:g.189035119T=	GRCh38
NC_000002.11:g.189899845T= , CM000664.1:g.189899845T=	GRCh37
NC_000002.10:g.189608090T=	NCBI36
NG_011799.1:g.149761A=
NG_011799.2:g.149761A=
NG_011799.3:g.195183A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.4150A= MANE Select	ENSP00000364000.3:p.Ile1384=
ENST00000374866.7:c.4150A=	ENSP00000364000.3:p.Ile1384=
ENST00000618828.1:c.2989A=	ENSP00000482184.1:p.Ile997=
NM_000393.3:c.4150A=	NP_000384.2:p.Ile1384=
XM_011510573.1:c.4012A=	XP_011508875.1:p.Ile1338=
NM_000393.4:c.4150A=	NP_000384.2:p.Ile1384=
XM_011510573.3:c.4012A=	XP_011508875.1:p.Ile1338=
NM_000393.5:c.4150A= MANE Select	NP_000384.2:p.Ile1384=