Canonical Allele Identifier: CA1226660382
Gene: COG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690033C= , CM000663.2:g.230690033C= GRCh38
NC_000001.10:g.230825779C= , CM000663.1:g.230825779C= GRCh37
NC_000001.9:g.228892402C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1814C= MANE Select ENSP00000355629.4:p.Ser605=
ENST00000366668.7:c.1811C= ENSP00000355628.3:p.Ser604=
ENST00000366669.8:c.1814C= ENSP00000355629.4:p.Ser605=
ENST00000468893.6:c.*1672C= ENSP00000476305.1:n.*1672C=
ENST00000478710.1:n.73C=
ENST00000490900.1:n.593C=
ENST00000534989.1:c.1637C= ENSP00000440349.1:p.Ser546=
NM_001145036.1:c.1811C= NP_001138508.1:p.Ser604=
NM_007357.2:c.1814C= NP_031383.1:p.Ser605=
NM_007357.3:c.1814C= MANE Select NP_031383.1:p.Ser605=
NM_001145036.2:c.1811C= NP_001138508.1:p.Ser604=