Canonical Allele Identifier: CA430321279

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910631A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045905A>G , CM000664.2:g.189045905A>G	GRCh38
NC_000002.11:g.189910631A>G , CM000664.1:g.189910631A>G	GRCh37
NC_000002.10:g.189618876A>G	NCBI36
NG_011799.1:g.138975T>C
NG_011799.2:g.138975T>C
NG_011799.3:g.184397T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3204T>C MANE Select	ENSP00000364000.3:p.Gly1068=
ENST00000374866.7:c.3204T>C	ENSP00000364000.3:p.Gly1068=
ENST00000618828.1:c.2043T>C	ENSP00000482184.1:p.Gly681=
NM_000393.3:c.3204T>C	NP_000384.2:p.Gly1068=
XM_011510573.1:c.3066T>C	XP_011508875.1:p.Gly1022=
NM_000393.4:c.3204T>C	NP_000384.2:p.Gly1068=
XM_011510573.3:c.3066T>C	XP_011508875.1:p.Gly1022=
NM_000393.5:c.3204T>C MANE Select	NP_000384.2:p.Gly1068=