Canonical Allele Identifier: CA430322229

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189915382A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050656A>T , CM000664.2:g.189050656A>T	GRCh38
NC_000002.11:g.189915382A>T , CM000664.1:g.189915382A>T	GRCh37
NC_000002.10:g.189623627A>T	NCBI36
NG_011799.1:g.134224T>A
NG_011799.2:g.134224T>A
NG_011799.3:g.179646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2952T>A MANE Select	ENSP00000364000.3:p.Gly984=
ENST00000374866.7:c.2952T>A	ENSP00000364000.3:p.Gly984=
ENST00000618828.1:c.1791T>A	ENSP00000482184.1:p.Gly597=
NM_000393.3:c.2952T>A	NP_000384.2:p.Gly984=
XM_011510573.1:c.2814T>A	XP_011508875.1:p.Gly938=
NM_000393.4:c.2952T>A	NP_000384.2:p.Gly984=
XM_011510573.3:c.2814T>A	XP_011508875.1:p.Gly938=
NM_000393.5:c.2952T>A MANE Select	NP_000384.2:p.Gly984=