Canonical Allele Identifier: CA1141187673

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098318G= , CM000663.2:g.36098318G=	GRCh38
NC_000001.10:g.36563919G= , CM000663.1:g.36563919G=	GRCh37
NC_000001.9:g.36336506G=	NCBI36
NG_016245.2:g.31767C=

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.1363C= MANE Select	NP_005193.1:p.Gln455=
ENST00000397799.2:c.1363C= MANE Select	ENSP00000380901.1:p.Gln455=
NM_001294347.1:c.1168C=	NP_001281276.1:p.Gln390=
NM_001294347.2:c.1168C=	NP_001281276.1:p.Gln390=
NM_005202.3:c.1363C=	NP_005193.1:p.Gln455=
ENST00000303143.9:c.1363C=	ENSP00000305913.4:p.Gln455=
ENST00000397799.1:c.1363C=	ENSP00000380901.1:p.Gln455=
ENST00000481785.1:c.1168C=	ENSP00000436433.1:p.Gln390=
ENST00000615990.1:c.773-238C=	ENSP00000484406.1:n.773-238C=
XM_005270477.2:c.1594C=	XP_005270534.1:p.Gln532=
XM_005270477.3:c.1594C=	XP_005270534.1:p.Gln532=