Canonical Allele Identifier: CA38855671

Gene: COG2

Linked Data

• dbSNP Id: rs539880407
• gnomAD v3: 1-230690351-C-CTCTGCCTGGGCT
• gnomAD v4: 1-230690351-C-CTCTGCCTGGGCT
• MyVariant Identifiers: chr1:g.230826097_230826098insTCTGCCTGGGCT (hg19) ; chr1:g.230690351_230690352insTCTGCCTGGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690354_230690365dup , CM000663.2:g.230690354_230690365dup	GRCh38
NC_000001.10:g.230826100_230826111dup , CM000663.1:g.230826100_230826111dup	GRCh37
NC_000001.9:g.228892723_228892734dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+201_1934+212dup MANE Select	ENSP00000355629.4:n.1934+201_1934+212dup
ENST00000366668.7:c.1931+201_1931+212dup	ENSP00000355628.3:n.1931+201_1931+212dup
ENST00000366669.8:c.1934+201_1934+212dup	ENSP00000355629.4:n.1934+201_1934+212dup
ENST00000468893.6:c.*1792+201_*1792+212dup	ENSP00000476305.1:n.*1792+201_*1792+212dup
ENST00000478710.1:n.193+201_193+212dup
ENST00000534989.1:c.1757+201_1757+212dup	ENSP00000440349.1:n.1757+201_1757+212dup
NM_001145036.1:c.1931+201_1931+212dup	NP_001138508.1:n.1931+201_1931+212dup
NM_007357.2:c.1934+201_1934+212dup	NP_031383.1:n.1934+201_1934+212dup
NM_007357.3:c.1934+201_1934+212dup MANE Select	NP_031383.1:n.1934+201_1934+212dup
NM_001145036.2:c.1931+201_1931+212dup	NP_001138508.1:n.1931+201_1931+212dup