Canonical Allele Identifier: CA1315425045

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050644C= , CM000664.2:g.189050644C=	GRCh38
NC_000002.11:g.189915370C= , CM000664.1:g.189915370C=	GRCh37
NC_000002.10:g.189623615C=	NCBI36
NG_011799.1:g.134236G=
NG_011799.2:g.134236G=
NG_011799.3:g.179658G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2964G= MANE Select	ENSP00000364000.3:p.Thr988=
ENST00000374866.7:c.2964G=	ENSP00000364000.3:p.Thr988=
ENST00000618828.1:c.1803G=	ENSP00000482184.1:p.Thr601=
NM_000393.3:c.2964G=	NP_000384.2:p.Thr988=
XM_011510573.1:c.2826G=	XP_011508875.1:p.Thr942=
NM_000393.4:c.2964G=	NP_000384.2:p.Thr988=
XM_011510573.3:c.2826G=	XP_011508875.1:p.Thr942=
NM_000393.5:c.2964G= MANE Select	NP_000384.2:p.Thr988=