Canonical Allele Identifier: CA1226660469

Gene: COG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690107A= , CM000663.2:g.230690107A=	GRCh38
NC_000001.10:g.230825853A= , CM000663.1:g.230825853A=	GRCh37
NC_000001.9:g.228892476A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1888A= MANE Select	ENSP00000355629.4:p.Ile630=
ENST00000366668.7:c.1885A=	ENSP00000355628.3:p.Ile629=
ENST00000366669.8:c.1888A=	ENSP00000355629.4:p.Ile630=
ENST00000468893.6:c.*1746A=	ENSP00000476305.1:n.*1746A=
ENST00000478710.1:n.147A=
ENST00000490900.1:n.667A=
ENST00000534989.1:c.1711A=	ENSP00000440349.1:p.Ile571=
NM_001145036.1:c.1885A=	NP_001138508.1:p.Ile629=
NM_007357.2:c.1888A=	NP_031383.1:p.Ile630=
NM_007357.3:c.1888A= MANE Select	NP_031383.1:p.Ile630=
NM_001145036.2:c.1885A=	NP_001138508.1:p.Ile629=