Canonical Allele Identifier: CA430324381

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927597G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062871G>T , CM000664.2:g.189062871G>T	GRCh38
NC_000002.11:g.189927597G>T , CM000664.1:g.189927597G>T	GRCh37
NC_000002.10:g.189635842G>T	NCBI36
NG_011799.1:g.122009C>A
NG_011799.2:g.122009C>A
NG_011799.3:g.167431C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1971C>A MANE Select	ENSP00000364000.3:p.Gly657=
ENST00000374866.7:c.1971C>A	ENSP00000364000.3:p.Gly657=
ENST00000470524.2:n.77C>A
ENST00000618828.1:c.810C>A	ENSP00000482184.1:p.Gly270=
NM_000393.3:c.1971C>A	NP_000384.2:p.Gly657=
XM_011510573.1:c.1833C>A	XP_011508875.1:p.Gly611=
NM_000393.4:c.1971C>A	NP_000384.2:p.Gly657=
XM_011510573.3:c.1833C>A	XP_011508875.1:p.Gly611=
NM_000393.5:c.1971C>A MANE Select	NP_000384.2:p.Gly657=