Canonical Allele Identifier: CA647367625

Gene: COL5A2

Linked Data

• COSMIC: COSN23810978

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058800A>T , CM000664.2:g.189058800A>T	GRCh38
NC_000002.11:g.189923526A>T , CM000664.1:g.189923526A>T	GRCh37
NC_000002.10:g.189631771A>T	NCBI36
NG_011799.1:g.126080T>A
NG_011799.2:g.126080T>A
NG_011799.3:g.171502T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2130+49T>A MANE Select	ENSP00000364000.3:n.2130+49T>A
ENST00000374866.7:c.2130+49T>A	ENSP00000364000.3:n.2130+49T>A
ENST00000470524.2:n.236+49T>A
ENST00000618828.1:c.969+49T>A	ENSP00000482184.1:n.969+49T>A
NM_000393.3:c.2130+49T>A	NP_000384.2:n.2130+49T>A
XM_011510573.1:c.1992+49T>A	XP_011508875.1:n.1992+49T>A
NM_000393.4:c.2130+49T>A	NP_000384.2:n.2130+49T>A
XM_011510573.3:c.1992+49T>A	XP_011508875.1:n.1992+49T>A
NM_000393.5:c.2130+49T>A MANE Select	NP_000384.2:n.2130+49T>A