Canonical Allele Identifier: CA430321969

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189915301G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050575G>T , CM000664.2:g.189050575G>T	GRCh38
NC_000002.11:g.189915301G>T , CM000664.1:g.189915301G>T	GRCh37
NC_000002.10:g.189623546G>T	NCBI36
NG_011799.1:g.134305C>A
NG_011799.2:g.134305C>A
NG_011799.3:g.179727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3033C>A MANE Select	ENSP00000364000.3:p.Gly1011=
ENST00000374866.7:c.3033C>A	ENSP00000364000.3:p.Gly1011=
ENST00000618828.1:c.1872C>A	ENSP00000482184.1:p.Gly624=
NM_000393.3:c.3033C>A	NP_000384.2:p.Gly1011=
XM_011510573.1:c.2895C>A	XP_011508875.1:p.Gly965=
NM_000393.4:c.3033C>A	NP_000384.2:p.Gly1011=
XM_011510573.3:c.2895C>A	XP_011508875.1:p.Gly965=
NM_000393.5:c.3033C>A MANE Select	NP_000384.2:p.Gly1011=