Canonical Allele Identifier: CA1315428680

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059241A= , CM000664.2:g.189059241A=	GRCh38
NC_000002.11:g.189923967A= , CM000664.1:g.189923967A=	GRCh37
NC_000002.10:g.189632212A=	NCBI36
NG_011799.1:g.125639T=
NG_011799.2:g.125639T=
NG_011799.3:g.171061T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-348T= MANE Select	ENSP00000364000.3:n.2086-348T=
ENST00000374866.7:c.2086-348T=	ENSP00000364000.3:n.2086-348T=
ENST00000470524.2:n.192-348T=
ENST00000618828.1:c.925-348T=	ENSP00000482184.1:n.925-348T=
NM_000393.3:c.2086-348T=	NP_000384.2:n.2086-348T=
XM_011510573.1:c.1948-348T=	XP_011508875.1:n.1948-348T=
NM_000393.4:c.2086-348T=	NP_000384.2:n.2086-348T=
XM_011510573.3:c.1948-348T=	XP_011508875.1:n.1948-348T=
NM_000393.5:c.2086-348T= MANE Select	NP_000384.2:n.2086-348T=