Canonical Allele Identifier: CA345198859

Gene: COG2

Linked Data

• gnomAD v4: 1-230690084-A-G
• MyVariant Identifiers: chr1:g.230825830A>G (hg19) ; chr1:g.230690084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690084A>G , CM000663.2:g.230690084A>G	GRCh38
NC_000001.10:g.230825830A>G , CM000663.1:g.230825830A>G	GRCh37
NC_000001.9:g.228892453A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1865A>G MANE Select	ENSP00000355629.4:p.His622Arg
ENST00000366668.7:c.1862A>G	ENSP00000355628.3:p.His621Arg
ENST00000366669.8:c.1865A>G	ENSP00000355629.4:p.His622Arg
ENST00000468893.6:c.*1723A>G	ENSP00000476305.1:n.*1723A>G
ENST00000478710.1:n.124A>G
ENST00000490900.1:n.644A>G
ENST00000534989.1:c.1688A>G	ENSP00000440349.1:p.His563Arg
NM_001145036.1:c.1862A>G	NP_001138508.1:p.His621Arg
NM_007357.2:c.1865A>G	NP_031383.1:p.His622Arg
NM_007357.3:c.1865A>G MANE Select	NP_031383.1:p.His622Arg
NM_001145036.2:c.1862A>G	NP_001138508.1:p.His621Arg