Canonical Allele Identifier: CA430324394

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927606A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062880A>T , CM000664.2:g.189062880A>T	GRCh38
NC_000002.11:g.189927606A>T , CM000664.1:g.189927606A>T	GRCh37
NC_000002.10:g.189635851A>T	NCBI36
NG_011799.1:g.122000T>A
NG_011799.2:g.122000T>A
NG_011799.3:g.167422T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1962T>A MANE Select	ENSP00000364000.3:p.Gly654=
ENST00000374866.7:c.1962T>A	ENSP00000364000.3:p.Gly654=
ENST00000470524.2:n.68T>A
ENST00000618828.1:c.801T>A	ENSP00000482184.1:p.Gly267=
NM_000393.3:c.1962T>A	NP_000384.2:p.Gly654=
XM_011510573.1:c.1824T>A	XP_011508875.1:p.Gly608=
NM_000393.4:c.1962T>A	NP_000384.2:p.Gly654=
XM_011510573.3:c.1824T>A	XP_011508875.1:p.Gly608=
NM_000393.5:c.1962T>A MANE Select	NP_000384.2:p.Gly654=