Canonical Allele Identifier: CA2650968740

Gene: COG2

Linked Data

• gnomAD v4: 1-230690250-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690250_230690251insCT , CM000663.2:g.230690250_230690251insCT	GRCh38
NC_000001.10:g.230825996_230825997insCT , CM000663.1:g.230825996_230825997insCT	GRCh37
NC_000001.9:g.228892619_228892620insCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+97_1934+98insCT MANE Select	ENSP00000355629.4:n.1934+97_1934+98insCT
ENST00000366668.7:c.1931+97_1931+98insCT	ENSP00000355628.3:n.1931+97_1931+98insCT
ENST00000366669.8:c.1934+97_1934+98insCT	ENSP00000355629.4:n.1934+97_1934+98insCT
ENST00000468893.6:c.*1792+97_*1792+98insCT	ENSP00000476305.1:n.*1792+97_*1792+98insCT
ENST00000478710.1:n.193+97_193+98insCT
ENST00000490900.1:n.810_811insCT
ENST00000534989.1:c.1757+97_1757+98insCT	ENSP00000440349.1:n.1757+97_1757+98insCT
NM_001145036.1:c.1931+97_1931+98insCT	NP_001138508.1:n.1931+97_1931+98insCT
NM_007357.2:c.1934+97_1934+98insCT	NP_031383.1:n.1934+97_1934+98insCT
NM_007357.3:c.1934+97_1934+98insCT MANE Select	NP_031383.1:n.1934+97_1934+98insCT
NM_001145036.2:c.1931+97_1931+98insCT	NP_001138508.1:n.1931+97_1931+98insCT