Canonical Allele Identifier: CA1226660452
Gene: COG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690101C= , CM000663.2:g.230690101C= GRCh38
NC_000001.10:g.230825847C= , CM000663.1:g.230825847C= GRCh37
NC_000001.9:g.228892470C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1882C= MANE Select ENSP00000355629.4:p.Gln628=
ENST00000366668.7:c.1879C= ENSP00000355628.3:p.Gln627=
ENST00000366669.8:c.1882C= ENSP00000355629.4:p.Gln628=
ENST00000468893.6:c.*1740C= ENSP00000476305.1:n.*1740C=
ENST00000478710.1:n.141C=
ENST00000490900.1:n.661C=
ENST00000534989.1:c.1705C= ENSP00000440349.1:p.Gln569=
NM_001145036.1:c.1879C= NP_001138508.1:p.Gln627=
NM_007357.2:c.1882C= NP_031383.1:p.Gln628=
NM_007357.3:c.1882C= MANE Select NP_031383.1:p.Gln628=
NM_001145036.2:c.1879C= NP_001138508.1:p.Gln627=