Canonical Allele Identifier: CA1315424973

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050497A= , CM000664.2:g.189050497A=	GRCh38
NC_000002.11:g.189915223A= , CM000664.1:g.189915223A=	GRCh37
NC_000002.10:g.189623468A=	NCBI36
NG_011799.1:g.134383T=
NG_011799.2:g.134383T=
NG_011799.3:g.179805T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+72T= MANE Select	ENSP00000364000.3:n.3039+72T=
ENST00000374866.7:c.3039+72T=	ENSP00000364000.3:n.3039+72T=
ENST00000618828.1:c.1878+72T=	ENSP00000482184.1:n.1878+72T=
NM_000393.3:c.3039+72T=	NP_000384.2:n.3039+72T=
XM_011510573.1:c.2901+72T=	XP_011508875.1:n.2901+72T=
NM_000393.4:c.3039+72T=	NP_000384.2:n.3039+72T=
XM_011510573.3:c.2901+72T=	XP_011508875.1:n.2901+72T=
NM_000393.5:c.3039+72T= MANE Select	NP_000384.2:n.3039+72T=