Canonical Allele Identifier: CA345198993

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825888A>T (hg19) ; chr1:g.230690142A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690142A>T , CM000663.2:g.230690142A>T	GRCh38
NC_000001.10:g.230825888A>T , CM000663.1:g.230825888A>T	GRCh37
NC_000001.9:g.228892511A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1923A>T MANE Select	ENSP00000355629.4:p.Glu641Asp
ENST00000366668.7:c.1920A>T	ENSP00000355628.3:p.Glu640Asp
ENST00000366669.8:c.1923A>T	ENSP00000355629.4:p.Glu641Asp
ENST00000468893.6:c.*1781A>T	ENSP00000476305.1:n.*1781A>T
ENST00000478710.1:n.182A>T
ENST00000490900.1:n.702A>T
ENST00000534989.1:c.1746A>T	ENSP00000440349.1:p.Glu582Asp
NM_001145036.1:c.1920A>T	NP_001138508.1:p.Glu640Asp
NM_007357.2:c.1923A>T	NP_031383.1:p.Glu641Asp
NM_007357.3:c.1923A>T MANE Select	NP_031383.1:p.Glu641Asp
NM_001145036.2:c.1920A>T	NP_001138508.1:p.Glu640Asp