Canonical Allele Identifier: CA1226658475
Gene: COG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690296C= , CM000663.2:g.230690296C= GRCh38
NC_000001.10:g.230826042C= , CM000663.1:g.230826042C= GRCh37
NC_000001.9:g.228892665C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1934+143C= MANE Select ENSP00000355629.4:n.1934+143C=
ENST00000366668.7:c.1931+143C= ENSP00000355628.3:n.1931+143C=
ENST00000366669.8:c.1934+143C= ENSP00000355629.4:n.1934+143C=
ENST00000468893.6:c.*1792+143C= ENSP00000476305.1:n.*1792+143C=
ENST00000478710.1:n.193+143C=
ENST00000490900.1:n.856C=
ENST00000534989.1:c.1757+143C= ENSP00000440349.1:n.1757+143C=
NM_001145036.1:c.1931+143C= NP_001138508.1:n.1931+143C=
NM_007357.2:c.1934+143C= NP_031383.1:n.1934+143C=
NM_007357.3:c.1934+143C= MANE Select NP_031383.1:n.1934+143C=
NM_001145036.2:c.1931+143C= NP_001138508.1:n.1931+143C=