Canonical Allele Identifier: CA16604076

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189041675C>A , CM000664.2:g.189041675C>A	GRCh38
NC_000002.11:g.189906401C>A , CM000664.1:g.189906401C>A	GRCh37
NC_000002.10:g.189614646C>A	NCBI36
NG_011799.1:g.143205G>T
NG_011799.2:g.143205G>T
NG_011799.3:g.188627G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000393.5:c.3544G>T MANE Select	NP_000384.2:p.Gly1182Cys
ENST00000374866.9:c.3544G>T MANE Select	ENSP00000364000.3:p.Gly1182Cys
NM_000393.3:c.3544G>T	NP_000384.2:p.Gly1182Cys
NM_000393.4:c.3544G>T	NP_000384.2:p.Gly1182Cys
ENST00000374866.7:c.3544G>T	ENSP00000364000.3:p.Gly1182Cys
ENST00000618828.1:c.2383G>T	ENSP00000482184.1:p.Gly795Cys
XM_011510573.1:c.3406G>T	XP_011508875.1:p.Gly1136Cys
XM_011510573.3:c.3406G>T	XP_011508875.1:p.Gly1136Cys