Canonical Allele Identifier: CA1315419014

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046054A= , CM000664.2:g.189046054A=	GRCh38
NC_000002.11:g.189910780A= , CM000664.1:g.189910780A=	GRCh37
NC_000002.10:g.189619025A=	NCBI36
NG_011799.1:g.138826T=
NG_011799.2:g.138826T=
NG_011799.3:g.184248T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-147T= MANE Select	ENSP00000364000.3:n.3202-147T=
ENST00000374866.7:c.3202-147T=	ENSP00000364000.3:n.3202-147T=
ENST00000618828.1:c.2041-147T=	ENSP00000482184.1:n.2041-147T=
NM_000393.3:c.3202-147T=	NP_000384.2:n.3202-147T=
XM_011510573.1:c.3064-147T=	XP_011508875.1:n.3064-147T=
NM_000393.4:c.3202-147T=	NP_000384.2:n.3202-147T=
XM_011510573.3:c.3064-147T=	XP_011508875.1:n.3064-147T=
NM_000393.5:c.3202-147T= MANE Select	NP_000384.2:n.3202-147T=