Canonical Allele Identifier: CA2650968648

Gene: COG2

Linked Data

• gnomAD v4: 1-230690150-ATAAGTAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690154_230690161del , CM000663.2:g.230690154_230690161del	GRCh38
NC_000001.10:g.230825900_230825907del , CM000663.1:g.230825900_230825907del	GRCh37
NC_000001.9:g.228892523_228892530del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1934+1_1934+8del
ENST00000366668.7:c.1931+1_1931+8del
ENST00000366669.8:c.1934+1_1934+8del
ENST00000468893.6:c.*1792+1_*1792+8del
ENST00000478710.1:n.193+1_193+8del
ENST00000490900.1:n.714_721del
ENST00000534989.1:c.1757+1_1757+8del
NM_001145036.1:c.1931+1_1931+8del
NM_007357.2:c.1934+1_1934+8del
NM_007357.3:c.1934+1_1934+8del
NM_001145036.2:c.1931+1_1931+8del