Canonical Allele Identifier: CA1226658551

Gene: COG2

Linked Data

• dbSNP Id: rs1662998056

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690397_230690436del , CM000663.2:g.230690397_230690436del	GRCh38
NC_000001.10:g.230826143_230826182del , CM000663.1:g.230826143_230826182del	GRCh37
NC_000001.9:g.228892766_228892805del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+244_1934+283del MANE Select	ENSP00000355629.4:n.1934+244_1934+283del
ENST00000366668.7:c.1931+244_1931+283del	ENSP00000355628.3:n.1931+244_1931+283del
ENST00000366669.8:c.1934+244_1934+283del	ENSP00000355629.4:n.1934+244_1934+283del
ENST00000468893.6:c.*1792+244_*1792+283del	ENSP00000476305.1:n.*1792+244_*1792+283del
ENST00000478710.1:n.193+244_193+283del
ENST00000534989.1:c.1757+244_1757+283del	ENSP00000440349.1:n.1757+244_1757+283del
NM_001145036.1:c.1931+244_1931+283del	NP_001138508.1:n.1931+244_1931+283del
NM_007357.2:c.1934+244_1934+283del	NP_031383.1:n.1934+244_1934+283del
NM_007357.3:c.1934+244_1934+283del MANE Select	NP_031383.1:n.1934+244_1934+283del
NM_001145036.2:c.1931+244_1931+283del	NP_001138508.1:n.1931+244_1931+283del