Canonical Allele Identifier: CA2022009

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189043249C>T , CM000664.2:g.189043249C>T	GRCh38
NC_000002.11:g.189907975C>T , CM000664.1:g.189907975C>T	GRCh37
NC_000002.10:g.189616220C>T	NCBI36
NG_011799.1:g.141631G>A
NG_011799.2:g.141631G>A
NG_011799.3:g.187053G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000393.5:c.3373G>A MANE Select	NP_000384.2:p.Gly1125Arg
ENST00000374866.9:c.3373G>A MANE Select	ENSP00000364000.3:p.Gly1125Arg
NM_000393.3:c.3373G>A	NP_000384.2:p.Gly1125Arg
NM_000393.4:c.3373G>A	NP_000384.2:p.Gly1125Arg
ENST00000374866.7:c.3373G>A	ENSP00000364000.3:p.Gly1125Arg
ENST00000618828.1:c.2212G>A	ENSP00000482184.1:p.Gly738Arg
XM_011510573.1:c.3235G>A	XP_011508875.1:p.Gly1079Arg
XM_011510573.3:c.3235G>A	XP_011508875.1:p.Gly1079Arg