Canonical Allele Identifier: CA345198855
Gene: COG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.230690083C>A , CM000663.2:g.230690083C>A GRCh38
NC_000001.10:g.230825829C>A , CM000663.1:g.230825829C>A GRCh37
NC_000001.9:g.228892452C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366669.9:c.1864C>A MANE Select ENSP00000355629.4:p.His622Asn
ENST00000366668.7:c.1861C>A ENSP00000355628.3:p.His621Asn
ENST00000366669.8:c.1864C>A ENSP00000355629.4:p.His622Asn
ENST00000468893.6:c.*1722C>A ENSP00000476305.1:n.*1722C>A
ENST00000478710.1:n.123C>A
ENST00000490900.1:n.643C>A
ENST00000534989.1:c.1687C>A ENSP00000440349.1:p.His563Asn
NM_001145036.1:c.1861C>A NP_001138508.1:p.His621Asn
NM_007357.2:c.1864C>A NP_031383.1:p.His622Asn
NM_007357.3:c.1864C>A MANE Select NP_031383.1:p.His622Asn
NM_001145036.2:c.1861C>A NP_001138508.1:p.His621Asn