Canonical Allele Identifier: CA1226660287

Gene: COG2

Linked Data

• dbSNP Id: rs1662983373
• gnomAD v4: 1-230689973-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230689973T>G , CM000663.2:g.230689973T>G	GRCh38
NC_000001.10:g.230825719T>G , CM000663.1:g.230825719T>G	GRCh37
NC_000001.9:g.228892342T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1795-41T>G MANE Select	ENSP00000355629.4:n.1795-41T>G
ENST00000366668.7:c.1792-41T>G	ENSP00000355628.3:n.1792-41T>G
ENST00000366669.8:c.1795-41T>G	ENSP00000355629.4:n.1795-41T>G
ENST00000468893.6:c.*1653-41T>G	ENSP00000476305.1:n.*1653-41T>G
ENST00000478710.1:n.13T>G
ENST00000490900.1:n.574-41T>G
ENST00000534989.1:c.1618-41T>G	ENSP00000440349.1:n.1618-41T>G
NM_001145036.1:c.1792-41T>G	NP_001138508.1:n.1792-41T>G
NM_007357.2:c.1795-41T>G	NP_031383.1:n.1795-41T>G
NM_007357.3:c.1795-41T>G MANE Select	NP_031383.1:n.1795-41T>G
NM_001145036.2:c.1792-41T>G	NP_001138508.1:n.1792-41T>G