Canonical Allele Identifier: CA529689934

Gene: COG2

Linked Data

• dbSNP Id: rs1485649507
• gnomAD v2: 1-230826093-CT-C
• gnomAD v3: 1-230690347-CT-C
• gnomAD v4: 1-230690347-CT-C
• MyVariant Identifiers: chr1:g.230826094del (hg19) ; chr1:g.230690348del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690349del , CM000663.2:g.230690349del	GRCh38
NC_000001.10:g.230826095del , CM000663.1:g.230826095del	GRCh37
NC_000001.9:g.228892718del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+196del MANE Select	ENSP00000355629.4:n.1934+196del
ENST00000366668.7:c.1931+196del	ENSP00000355628.3:n.1931+196del
ENST00000366669.8:c.1934+196del	ENSP00000355629.4:n.1934+196del
ENST00000468893.6:c.*1792+196del	ENSP00000476305.1:n.*1792+196del
ENST00000478710.1:n.193+196del
ENST00000534989.1:c.1757+196del	ENSP00000440349.1:n.1757+196del
NM_001145036.1:c.1931+196del	NP_001138508.1:n.1931+196del
NM_007357.2:c.1934+196del	NP_031383.1:n.1934+196del
NM_007357.3:c.1934+196del MANE Select	NP_031383.1:n.1934+196del
NM_001145036.2:c.1931+196del	NP_001138508.1:n.1931+196del