Canonical Allele Identifier: CA2740097881

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753253dup , CM000678.2:g.30753253dup	GRCh38
NC_000016.9:g.30764574dup , CM000678.1:g.30764574dup	GRCh37
NC_000016.8:g.30672075dup	NCBI36
NG_016616.1:g.9955dup
NG_016616.2:g.9955dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000294.3:c.348dup MANE Select	NP_000285.1:p.Asp117Ter
ENST00000563588.6:c.348dup MANE Select	ENSP00000455607.1:p.Asp117Ter
NM_000294.2:c.348dup	NP_000285.1:p.Asp117Ter
NM_001172432.1:c.348dup	NP_001165903.1:p.Asp117Ter
NM_001172432.2:c.348dup	NP_001165903.1:p.Asp117Ter
ENST00000328273.11:c.348dup	ENSP00000329968.7:p.Asp117Ter
ENST00000424889.7:c.348dup	ENSP00000388571.3:p.Asp117Ter
ENST00000561712.1:c.22dup
ENST00000563588.5:c.348dup	ENSP00000455607.1:p.Asp117Ter
ENST00000563607.1:c.*20dup	ENSP00000454641.1:n.*20dup
ENST00000563913.5:n.681dup
ENST00000564838.5:n.722dup
ENST00000565897.5:c.348dup	ENSP00000457359.1:p.Asp117Ter
ENST00000565924.5:c.348dup	ENSP00000455091.1:p.Asp117Ter
ENST00000569684.1:n.760dup