Canonical Allele Identifier: CA1226660433

Gene: COG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690084A= , CM000663.2:g.230690084A=	GRCh38
NC_000001.10:g.230825830A= , CM000663.1:g.230825830A=	GRCh37
NC_000001.9:g.228892453A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1865A= MANE Select	ENSP00000355629.4:p.His622=
ENST00000366668.7:c.1862A=	ENSP00000355628.3:p.His621=
ENST00000366669.8:c.1865A=	ENSP00000355629.4:p.His622=
ENST00000468893.6:c.*1723A=	ENSP00000476305.1:n.*1723A=
ENST00000478710.1:n.124A=
ENST00000490900.1:n.644A=
ENST00000534989.1:c.1688A=	ENSP00000440349.1:p.His563=
NM_001145036.1:c.1862A=	NP_001138508.1:p.His621=
NM_007357.2:c.1865A=	NP_031383.1:p.His622=
NM_007357.3:c.1865A= MANE Select	NP_031383.1:p.His622=
NM_001145036.2:c.1862A=	NP_001138508.1:p.His621=