Canonical Allele Identifier: CA2650968491

Gene: COG2

Linked Data

• gnomAD v4: 1-230690037-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690039_230690040del , CM000663.2:g.230690039_230690040del	GRCh38
NC_000001.10:g.230825785_230825786del , CM000663.1:g.230825785_230825786del	GRCh37
NC_000001.9:g.228892408_228892409del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1820_1821del MANE Select	ENSP00000355629.4:p.Tyr607CysfsTer18
ENST00000366668.7:c.1817_1818del	ENSP00000355628.3:p.Tyr606CysfsTer18
ENST00000366669.8:c.1820_1821del	ENSP00000355629.4:p.Tyr607CysfsTer18
ENST00000468893.6:c.*1678_*1679del	ENSP00000476305.1:n.*1678_*1679del
ENST00000478710.1:n.79_80del
ENST00000490900.1:n.599_600del
ENST00000534989.1:c.1643_1644del	ENSP00000440349.1:p.Tyr548CysfsTer18
NM_001145036.1:c.1817_1818del	NP_001138508.1:p.Tyr606CysfsTer18
NM_007357.2:c.1820_1821del	NP_031383.1:p.Tyr607CysfsTer18
NM_007357.3:c.1820_1821del MANE Select	NP_031383.1:p.Tyr607CysfsTer18
NM_001145036.2:c.1817_1818del	NP_001138508.1:p.Tyr606CysfsTer18