Canonical Allele Identifier: CA1147302192

Gene: COG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690041G= , CM000663.2:g.230690041G=	GRCh38
NC_000001.10:g.230825787G= , CM000663.1:g.230825787G=	GRCh37
NC_000001.9:g.228892410G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1822G= MANE Select	ENSP00000355629.4:p.Val608=
ENST00000366668.7:c.1819G=	ENSP00000355628.3:p.Val607=
ENST00000366669.8:c.1822G=	ENSP00000355629.4:p.Val608=
ENST00000468893.6:c.*1680G=	ENSP00000476305.1:n.*1680G=
ENST00000478710.1:n.81G=
ENST00000490900.1:n.601G=
ENST00000534989.1:c.1645G=	ENSP00000440349.1:p.Val549=
NM_001145036.1:c.1819G=	NP_001138508.1:p.Val607=
NM_007357.2:c.1822G=	NP_031383.1:p.Val608=
NM_007357.3:c.1822G= MANE Select	NP_031383.1:p.Val608=
NM_001145036.2:c.1819G=	NP_001138508.1:p.Val607=