Canonical Allele Identifier: CA423879304

Gene: COG2

Linked Data

• gnomAD v4: 1-230690133-T-G
• MyVariant Identifiers: chr1:g.230825879T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690133T>G , CM000663.2:g.230690133T>G	GRCh38
NC_000001.10:g.230825879T>G , CM000663.1:g.230825879T>G	GRCh37
NC_000001.9:g.228892502T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1914T>G MANE Select	ENSP00000355629.4:p.Thr638=
ENST00000366668.7:c.1911T>G	ENSP00000355628.3:p.Thr637=
ENST00000366669.8:c.1914T>G	ENSP00000355629.4:p.Thr638=
ENST00000468893.6:c.*1772T>G	ENSP00000476305.1:n.*1772T>G
ENST00000478710.1:n.173T>G
ENST00000490900.1:n.693T>G
ENST00000534989.1:c.1737T>G	ENSP00000440349.1:p.Thr579=
NM_001145036.1:c.1911T>G	NP_001138508.1:p.Thr637=
NM_007357.2:c.1914T>G	NP_031383.1:p.Thr638=
NM_007357.3:c.1914T>G MANE Select	NP_031383.1:p.Thr638=
NM_001145036.2:c.1911T>G	NP_001138508.1:p.Thr637=