Canonical Allele Identifier: CA430322195

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189915373T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050647T>A , CM000664.2:g.189050647T>A	GRCh38
NC_000002.11:g.189915373T>A , CM000664.1:g.189915373T>A	GRCh37
NC_000002.10:g.189623618T>A	NCBI36
NG_011799.1:g.134233A>T
NG_011799.2:g.134233A>T
NG_011799.3:g.179655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2961A>T MANE Select	ENSP00000364000.3:p.Gly987=
ENST00000374866.7:c.2961A>T	ENSP00000364000.3:p.Gly987=
ENST00000618828.1:c.1800A>T	ENSP00000482184.1:p.Gly600=
NM_000393.3:c.2961A>T	NP_000384.2:p.Gly987=
XM_011510573.1:c.2823A>T	XP_011508875.1:p.Gly941=
NM_000393.4:c.2961A>T	NP_000384.2:p.Gly987=
XM_011510573.3:c.2823A>T	XP_011508875.1:p.Gly941=
NM_000393.5:c.2961A>T MANE Select	NP_000384.2:p.Gly987=