Canonical Allele Identifier: CA2580613466

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 1526237
• ClinVar RCV Id: RCV002052257
• dbSNP Id: rs2151310152

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756263_30756265del , CM000678.2:g.30756263_30756265del	GRCh38
NC_000016.9:g.30767584_30767586del , CM000678.1:g.30767584_30767586del	GRCh37
NC_000016.8:g.30675085_30675087del	NCBI36
NG_016616.1:g.12965_12967del
NG_016616.2:g.12965_12967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.638_640del MANE Select	ENSP00000455607.1:p.Glu213del
ENST00000328273.11:c.638_640del	ENSP00000329968.7:p.Glu213del
ENST00000424889.7:c.638_640del	ENSP00000388571.3:p.Glu213del
ENST00000563588.5:c.638_640del	ENSP00000455607.1:p.Glu213del
ENST00000563913.5:n.971_973del
ENST00000564838.5:n.931-327_931-325del
ENST00000565897.5:c.638_640del	ENSP00000457359.1:p.Glu213del
ENST00000565924.5:c.638_640del	ENSP00000455091.1:p.Glu213del
ENST00000569684.1:n.1050_1052del
NM_000294.2:c.638_640del	NP_000285.1:p.Glu213del
NM_001172432.1:c.638_640del	NP_001165903.1:p.Glu213del
NM_000294.3:c.638_640del MANE Select	NP_000285.1:p.Glu213del
NM_001172432.2:c.638_640del	NP_001165903.1:p.Glu213del