Canonical Allele Identifier: CA345198589
Gene: COG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690036C>T , CM000663.2:g.230690036C>T GRCh38
NC_000001.10:g.230825782C>T , CM000663.1:g.230825782C>T GRCh37
NC_000001.9:g.228892405C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1817C>T MANE Select ENSP00000355629.4:p.Ser606Phe
ENST00000366668.7:c.1814C>T ENSP00000355628.3:p.Ser605Phe
ENST00000366669.8:c.1817C>T ENSP00000355629.4:p.Ser606Phe
ENST00000468893.6:c.*1675C>T ENSP00000476305.1:n.*1675C>T
ENST00000478710.1:n.76C>T
ENST00000490900.1:n.596C>T
ENST00000534989.1:c.1640C>T ENSP00000440349.1:p.Ser547Phe
NM_001145036.1:c.1814C>T NP_001138508.1:p.Ser605Phe
NM_007357.2:c.1817C>T NP_031383.1:p.Ser606Phe
NM_007357.3:c.1817C>T MANE Select NP_031383.1:p.Ser606Phe
NM_001145036.2:c.1814C>T NP_001138508.1:p.Ser605Phe