Canonical Allele Identifier: CA1145197343

Gene: COG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690352_230690365delinsTCTGCCTGGGCTTC , CM000663.2:g.230690352_230690365delinsTCTGCCTGGGCTTC	GRCh38
NC_000001.10:g.230826098_230826111delinsTCTGCCTGGGCTTC , CM000663.1:g.230826098_230826111delinsTCTGCCTGGGCTTC	GRCh37
NC_000001.9:g.228892721_228892734delinsTCTGCCTGGGCTTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+199_1934+212delinsTCTGCCTGGGCTTC MANE Select	ENSP00000355629.4:n.1934+199_1934+212delinsTCTGCCTGGGCTTC
ENST00000366668.7:c.1931+199_1931+212delinsTCTGCCTGGGCTTC	ENSP00000355628.3:n.1931+199_1931+212delinsTCTGCCTGGGCTTC
ENST00000366669.8:c.1934+199_1934+212delinsTCTGCCTGGGCTTC	ENSP00000355629.4:n.1934+199_1934+212delinsTCTGCCTGGGCTTC
ENST00000468893.6:c.*1792+199_*1792+212delinsTCTGCCTGGGCTTC	ENSP00000476305.1:n.*1792+199_*1792+212delinsTCTGCCTGGGCTTC
ENST00000478710.1:n.193+199_193+212delinsTCTGCCTGGGCTTC
ENST00000534989.1:c.1757+199_1757+212delinsTCTGCCTGGGCTTC	ENSP00000440349.1:n.1757+199_1757+212delinsTCTGCCTGGGCTTC
NM_001145036.1:c.1931+199_1931+212delinsTCTGCCTGGGCTTC	NP_001138508.1:n.1931+199_1931+212delinsTCTGCCTGGGCTTC
NM_007357.2:c.1934+199_1934+212delinsTCTGCCTGGGCTTC	NP_031383.1:n.1934+199_1934+212delinsTCTGCCTGGGCTTC
NM_007357.3:c.1934+199_1934+212delinsTCTGCCTGGGCTTC MANE Select	NP_031383.1:n.1934+199_1934+212delinsTCTGCCTGGGCTTC
NM_001145036.2:c.1931+199_1931+212delinsTCTGCCTGGGCTTC	NP_001138508.1:n.1931+199_1931+212delinsTCTGCCTGGGCTTC