Canonical Allele Identifier: CA345198801

Gene: COG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690074C>T , CM000663.2:g.230690074C>T	GRCh38
NC_000001.10:g.230825820C>T , CM000663.1:g.230825820C>T	GRCh37
NC_000001.9:g.228892443C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007357.3:c.1855C>T MANE Select	NP_031383.1:p.Gln619Ter
ENST00000366669.9:c.1855C>T MANE Select	ENSP00000355629.4:p.Gln619Ter
NM_001145036.1:c.1852C>T	NP_001138508.1:p.Gln618Ter
NM_001145036.2:c.1852C>T	NP_001138508.1:p.Gln618Ter
NM_007357.2:c.1855C>T	NP_031383.1:p.Gln619Ter
ENST00000366668.7:c.1852C>T	ENSP00000355628.3:p.Gln618Ter
ENST00000366669.8:c.1855C>T	ENSP00000355629.4:p.Gln619Ter
ENST00000468893.6:c.*1713C>T	ENSP00000476305.1:n.*1713C>T
ENST00000478710.1:n.114C>T
ENST00000490900.1:n.634C>T
ENST00000534989.1:c.1678C>T	ENSP00000440349.1:p.Gln560Ter