Canonical Allele Identifier: CA345198960

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825872A>T (hg19) ; chr1:g.230690126A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690126A>T , CM000663.2:g.230690126A>T	GRCh38
NC_000001.10:g.230825872A>T , CM000663.1:g.230825872A>T	GRCh37
NC_000001.9:g.228892495A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366669.9:c.1907A>T MANE Select	ENSP00000355629.4:p.Glu636Val
ENST00000366668.7:c.1904A>T	ENSP00000355628.3:p.Glu635Val
ENST00000366669.8:c.1907A>T	ENSP00000355629.4:p.Glu636Val
ENST00000468893.6:c.*1765A>T	ENSP00000476305.1:n.*1765A>T
ENST00000478710.1:n.166A>T
ENST00000490900.1:n.686A>T
ENST00000534989.1:c.1730A>T	ENSP00000440349.1:p.Glu577Val
NM_001145036.1:c.1904A>T	NP_001138508.1:p.Glu635Val
NM_007357.2:c.1907A>T	NP_031383.1:p.Glu636Val
NM_007357.3:c.1907A>T MANE Select	NP_031383.1:p.Glu636Val
NM_001145036.2:c.1904A>T	NP_001138508.1:p.Glu635Val