Canonical Allele Identifier: CA345198890

Gene: COG2

Linked Data

• dbSNP Id: rs1352424826
• gnomAD v2: 1-230825841-C-T
• gnomAD v4: 1-230690095-C-T
• MyVariant Identifiers: chr1:g.230825841C>T (hg19) ; chr1:g.230690095C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690095C>T , CM000663.2:g.230690095C>T	GRCh38
NC_000001.10:g.230825841C>T , CM000663.1:g.230825841C>T	GRCh37
NC_000001.9:g.228892464C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1876C>T MANE Select	ENSP00000355629.4:p.Leu626Phe
ENST00000366668.7:c.1873C>T	ENSP00000355628.3:p.Leu625Phe
ENST00000366669.8:c.1876C>T	ENSP00000355629.4:p.Leu626Phe
ENST00000468893.6:c.*1734C>T	ENSP00000476305.1:n.*1734C>T
ENST00000478710.1:n.135C>T
ENST00000490900.1:n.655C>T
ENST00000534989.1:c.1699C>T	ENSP00000440349.1:p.Leu567Phe
NM_001145036.1:c.1873C>T	NP_001138508.1:p.Leu625Phe
NM_007357.2:c.1876C>T	NP_031383.1:p.Leu626Phe
NM_007357.3:c.1876C>T MANE Select	NP_031383.1:p.Leu626Phe
NM_001145036.2:c.1873C>T	NP_001138508.1:p.Leu625Phe