Canonical Allele Identifier: CA1447904

Gene: COG2

Linked Data

• dbSNP Id: rs757997836
• ExAC: 1:230825937 A / G
• gnomAD v2: 1-230825937-A-G
• gnomAD v3: 1-230690191-A-G
• gnomAD v4: 1-230690191-A-G
• MyVariant Identifiers: chr1:g.230825937A>G (hg19) ; chr1:g.230690191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690191A>G , CM000663.2:g.230690191A>G	GRCh38
NC_000001.10:g.230825937A>G , CM000663.1:g.230825937A>G	GRCh37
NC_000001.9:g.228892560A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+38A>G MANE Select	ENSP00000355629.4:n.1934+38A>G
ENST00000366668.7:c.1931+38A>G	ENSP00000355628.3:n.1931+38A>G
ENST00000366669.8:c.1934+38A>G	ENSP00000355629.4:n.1934+38A>G
ENST00000468893.6:c.*1792+38A>G	ENSP00000476305.1:n.*1792+38A>G
ENST00000478710.1:n.193+38A>G
ENST00000490900.1:n.751A>G
ENST00000534989.1:c.1757+38A>G	ENSP00000440349.1:n.1757+38A>G
NM_001145036.1:c.1931+38A>G	NP_001138508.1:n.1931+38A>G
NM_007357.2:c.1934+38A>G	NP_031383.1:n.1934+38A>G
NM_007357.3:c.1934+38A>G MANE Select	NP_031383.1:n.1934+38A>G
NM_001145036.2:c.1931+38A>G	NP_001138508.1:n.1931+38A>G