Canonical Allele Identifier: CA430323867

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189923581T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058855T>G , CM000664.2:g.189058855T>G	GRCh38
NC_000002.11:g.189923581T>G , CM000664.1:g.189923581T>G	GRCh37
NC_000002.10:g.189631826T>G	NCBI36
NG_011799.1:g.126025A>C
NG_011799.2:g.126025A>C
NG_011799.3:g.171447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2124A>C MANE Select	ENSP00000364000.3:p.Gly708=
ENST00000374866.7:c.2124A>C	ENSP00000364000.3:p.Gly708=
ENST00000470524.2:n.230A>C
ENST00000618828.1:c.963A>C	ENSP00000482184.1:p.Gly321=
NM_000393.3:c.2124A>C	NP_000384.2:p.Gly708=
XM_011510573.1:c.1986A>C	XP_011508875.1:p.Gly662=
NM_000393.4:c.2124A>C	NP_000384.2:p.Gly708=
XM_011510573.3:c.1986A>C	XP_011508875.1:p.Gly662=
NM_000393.5:c.2124A>C MANE Select	NP_000384.2:p.Gly708=