Canonical Allele Identifier: CA1315422643

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035202A= , CM000664.2:g.189035202A=	GRCh38
NC_000002.11:g.189899928A= , CM000664.1:g.189899928A=	GRCh37
NC_000002.10:g.189608173A=	NCBI36
NG_011799.1:g.149678T=
NG_011799.2:g.149678T=
NG_011799.3:g.195100T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4114-47T= MANE Select	ENSP00000364000.3:n.4114-47T=
ENST00000374866.7:c.4114-47T=	ENSP00000364000.3:n.4114-47T=
ENST00000618828.1:c.2953-47T=	ENSP00000482184.1:n.2953-47T=
NM_000393.3:c.4114-47T=	NP_000384.2:n.4114-47T=
XM_011510573.1:c.3976-47T=	XP_011508875.1:n.3976-47T=
NM_000393.4:c.4114-47T=	NP_000384.2:n.4114-47T=
XM_011510573.3:c.3976-47T=	XP_011508875.1:n.3976-47T=
NM_000393.5:c.4114-47T= MANE Select	NP_000384.2:n.4114-47T=