Canonical Allele Identifier: CA1447896

Gene: COG2

Linked Data

• dbSNP Id: rs760047595
• ExAC: 1:230825874 G / A
• gnomAD v2: 1-230825874-G-A
• gnomAD v4: 1-230690128-G-A
• MyVariant Identifiers: chr1:g.230825874G>A (hg19) ; chr1:g.230690128G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690128G>A , CM000663.2:g.230690128G>A	GRCh38
NC_000001.10:g.230825874G>A , CM000663.1:g.230825874G>A	GRCh37
NC_000001.9:g.228892497G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366669.9:c.1909G>A MANE Select	ENSP00000355629.4:p.Gly637Ser
ENST00000366668.7:c.1906G>A	ENSP00000355628.3:p.Gly636Ser
ENST00000366669.8:c.1909G>A	ENSP00000355629.4:p.Gly637Ser
ENST00000468893.6:c.*1767G>A	ENSP00000476305.1:n.*1767G>A
ENST00000478710.1:n.168G>A
ENST00000490900.1:n.688G>A
ENST00000534989.1:c.1732G>A	ENSP00000440349.1:p.Gly578Ser
NM_001145036.1:c.1906G>A	NP_001138508.1:p.Gly636Ser
NM_007357.2:c.1909G>A	NP_031383.1:p.Gly637Ser
NM_007357.3:c.1909G>A MANE Select	NP_031383.1:p.Gly637Ser
NM_001145036.2:c.1906G>A	NP_001138508.1:p.Gly636Ser