Canonical Allele Identifier: CA423878525

Gene: COG2

Linked Data

• MyVariant Identifiers: chr1:g.230825771C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690025C>G , CM000663.2:g.230690025C>G	GRCh38
NC_000001.10:g.230825771C>G , CM000663.1:g.230825771C>G	GRCh37
NC_000001.9:g.228892394C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000366669.9:c.1806C>G MANE Select	ENSP00000355629.4:p.Thr602=
ENST00000366668.7:c.1803C>G	ENSP00000355628.3:p.Thr601=
ENST00000366669.8:c.1806C>G	ENSP00000355629.4:p.Thr602=
ENST00000468893.6:c.*1664C>G	ENSP00000476305.1:n.*1664C>G
ENST00000478710.1:n.65C>G
ENST00000490900.1:n.585C>G
ENST00000534989.1:c.1629C>G	ENSP00000440349.1:p.Thr543=
NM_001145036.1:c.1803C>G	NP_001138508.1:p.Thr601=
NM_007357.2:c.1806C>G	NP_031383.1:p.Thr602=
NM_007357.3:c.1806C>G MANE Select	NP_031383.1:p.Thr602=
NM_001145036.2:c.1803C>G	NP_001138508.1:p.Thr601=