Canonical Allele Identifier: CA345198824

Gene: COG2

Linked Data

• dbSNP Id: rs1185787505
• gnomAD v2: 1-230825824-G-A
• gnomAD v4: 1-230690078-G-A
• MyVariant Identifiers: chr1:g.230825824G>A (hg19) ; chr1:g.230690078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690078G>A , CM000663.2:g.230690078G>A	GRCh38
NC_000001.10:g.230825824G>A , CM000663.1:g.230825824G>A	GRCh37
NC_000001.9:g.228892447G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1859G>A MANE Select	ENSP00000355629.4:p.Ser620Asn
ENST00000366668.7:c.1856G>A	ENSP00000355628.3:p.Ser619Asn
ENST00000366669.8:c.1859G>A	ENSP00000355629.4:p.Ser620Asn
ENST00000468893.6:c.*1717G>A	ENSP00000476305.1:n.*1717G>A
ENST00000478710.1:n.118G>A
ENST00000490900.1:n.638G>A
ENST00000534989.1:c.1682G>A	ENSP00000440349.1:p.Ser561Asn
NM_001145036.1:c.1856G>A	NP_001138508.1:p.Ser619Asn
NM_007357.2:c.1859G>A	NP_031383.1:p.Ser620Asn
NM_007357.3:c.1859G>A MANE Select	NP_031383.1:p.Ser620Asn
NM_001145036.2:c.1856G>A	NP_001138508.1:p.Ser619Asn