Canonical Allele Identifier: CA345198792

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825818T>A (hg19) ; chr1:g.230690072T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690072T>A , CM000663.2:g.230690072T>A	GRCh38
NC_000001.10:g.230825818T>A , CM000663.1:g.230825818T>A	GRCh37
NC_000001.9:g.228892441T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1853T>A MANE Select	ENSP00000355629.4:p.Leu618His
ENST00000366668.7:c.1850T>A	ENSP00000355628.3:p.Leu617His
ENST00000366669.8:c.1853T>A	ENSP00000355629.4:p.Leu618His
ENST00000468893.6:c.*1711T>A	ENSP00000476305.1:n.*1711T>A
ENST00000478710.1:n.112T>A
ENST00000490900.1:n.632T>A
ENST00000534989.1:c.1676T>A	ENSP00000440349.1:p.Leu559His
NM_001145036.1:c.1850T>A	NP_001138508.1:p.Leu617His
NM_007357.2:c.1853T>A	NP_031383.1:p.Leu618His
NM_007357.3:c.1853T>A MANE Select	NP_031383.1:p.Leu618His
NM_001145036.2:c.1850T>A	NP_001138508.1:p.Leu617His