Canonical Allele Identifier: CA324898

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189043179G>A , CM000664.2:g.189043179G>A	GRCh38
NC_000002.11:g.189907905G>A , CM000664.1:g.189907905G>A	GRCh37
NC_000002.10:g.189616150G>A	NCBI36
NG_011799.1:g.141701C>T
NG_011799.2:g.141701C>T
NG_011799.3:g.187123C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000393.5:c.3443C>T MANE Select	NP_000384.2:p.Thr1148Ile
ENST00000374866.9:c.3443C>T MANE Select	ENSP00000364000.3:p.Thr1148Ile
NM_000393.3:c.3443C>T	NP_000384.2:p.Thr1148Ile
NM_000393.4:c.3443C>T	NP_000384.2:p.Thr1148Ile
ENST00000374866.7:c.3443C>T	ENSP00000364000.3:p.Thr1148Ile
ENST00000618828.1:c.2282C>T	ENSP00000482184.1:p.Thr761Ile
XM_011510573.1:c.3305C>T	XP_011508875.1:p.Thr1102Ile
XM_011510573.3:c.3305C>T	XP_011508875.1:p.Thr1102Ile