Canonical Allele Identifier: CA1226658377

Gene: COG2

Linked Data

• dbSNP Id: rs1662988311

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230690151dup , CM000663.2:g.230690151dup	GRCh38
NC_000001.10:g.230825897dup , CM000663.1:g.230825897dup	GRCh37
NC_000001.9:g.228892520dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366669.9:c.1932dup MANE Select	ENSP00000355629.4:p.Lys645Ter
ENST00000366668.7:c.1929dup	ENSP00000355628.3:p.Lys644Ter
ENST00000366669.8:c.1932dup	ENSP00000355629.4:p.Lys645Ter
ENST00000468893.6:c.*1790dup	ENSP00000476305.1:n.*1790dup
ENST00000478710.1:n.191dup
ENST00000490900.1:n.711dup
ENST00000534989.1:c.1755dup	ENSP00000440349.1:p.Lys586Ter
NM_001145036.1:c.1929dup	NP_001138508.1:p.Lys644Ter
NM_007357.2:c.1932dup	NP_031383.1:p.Lys645Ter
NM_007357.3:c.1932dup MANE Select	NP_031383.1:p.Lys645Ter
NM_001145036.2:c.1929dup	NP_001138508.1:p.Lys644Ter