Canonical Allele Identifier: CA345198500

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825764T>C (hg19) ; chr1:g.230690018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690018T>C , CM000663.2:g.230690018T>C	GRCh38
NC_000001.10:g.230825764T>C , CM000663.1:g.230825764T>C	GRCh37
NC_000001.9:g.228892387T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1799T>C MANE Select	ENSP00000355629.4:p.Val600Ala
ENST00000366668.7:c.1796T>C	ENSP00000355628.3:p.Val599Ala
ENST00000366669.8:c.1799T>C	ENSP00000355629.4:p.Val600Ala
ENST00000468893.6:c.*1657T>C	ENSP00000476305.1:n.*1657T>C
ENST00000478710.1:n.58T>C
ENST00000490900.1:n.578T>C
ENST00000534989.1:c.1622T>C	ENSP00000440349.1:p.Val541Ala
NM_001145036.1:c.1796T>C	NP_001138508.1:p.Val599Ala
NM_007357.2:c.1799T>C	NP_031383.1:p.Val600Ala
NM_007357.3:c.1799T>C MANE Select	NP_031383.1:p.Val600Ala
NM_001145036.2:c.1796T>C	NP_001138508.1:p.Val599Ala