Canonical Allele Identifier: CA345198913

Gene: COG2

Linked Data

• dbSNP Id: rs1490843292
• gnomAD v4: 1-230690107-A-G
• MyVariant Identifiers: chr1:g.230825853A>G (hg19) ; chr1:g.230690107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690107A>G , CM000663.2:g.230690107A>G	GRCh38
NC_000001.10:g.230825853A>G , CM000663.1:g.230825853A>G	GRCh37
NC_000001.9:g.228892476A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1888A>G MANE Select	ENSP00000355629.4:p.Ile630Val
ENST00000366668.7:c.1885A>G	ENSP00000355628.3:p.Ile629Val
ENST00000366669.8:c.1888A>G	ENSP00000355629.4:p.Ile630Val
ENST00000468893.6:c.*1746A>G	ENSP00000476305.1:n.*1746A>G
ENST00000478710.1:n.147A>G
ENST00000490900.1:n.667A>G
ENST00000534989.1:c.1711A>G	ENSP00000440349.1:p.Ile571Val
NM_001145036.1:c.1885A>G	NP_001138508.1:p.Ile629Val
NM_007357.2:c.1888A>G	NP_031383.1:p.Ile630Val
NM_007357.3:c.1888A>G MANE Select	NP_031383.1:p.Ile630Val
NM_001145036.2:c.1885A>G	NP_001138508.1:p.Ile629Val