Canonical Allele Identifier: CA430323876

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189923590G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058864G>T , CM000664.2:g.189058864G>T	GRCh38
NC_000002.11:g.189923590G>T , CM000664.1:g.189923590G>T	GRCh37
NC_000002.10:g.189631835G>T	NCBI36
NG_011799.1:g.126016C>A
NG_011799.2:g.126016C>A
NG_011799.3:g.171438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2115C>A MANE Select	ENSP00000364000.3:p.Gly705=
ENST00000374866.7:c.2115C>A	ENSP00000364000.3:p.Gly705=
ENST00000470524.2:n.221C>A
ENST00000618828.1:c.954C>A	ENSP00000482184.1:p.Gly318=
NM_000393.3:c.2115C>A	NP_000384.2:p.Gly705=
XM_011510573.1:c.1977C>A	XP_011508875.1:p.Gly659=
NM_000393.4:c.2115C>A	NP_000384.2:p.Gly705=
XM_011510573.3:c.1977C>A	XP_011508875.1:p.Gly659=
NM_000393.5:c.2115C>A MANE Select	NP_000384.2:p.Gly705=