Canonical Allele Identifier: CA976322322

Gene: PHKG2

Linked Data

• dbSNP Id: rs2053418517
• gnomAD v3: 16-30755958-TCAATC-T
• gnomAD v4: 16-30755958-TCAATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30755962_30755966del , CM000678.2:g.30755962_30755966del	GRCh38
NC_000016.9:g.30767283_30767287del , CM000678.1:g.30767283_30767287del	GRCh37
NC_000016.8:g.30674784_30674788del	NCBI36
NG_016616.1:g.12664_12668del
NG_016616.2:g.12664_12668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-220_557-216del MANE Select	ENSP00000455607.1:n.557-220_557-216del
ENST00000328273.11:c.557-220_557-216del	ENSP00000329968.7:n.557-220_557-216del
ENST00000424889.7:c.557-220_557-216del	ENSP00000388571.3:n.557-220_557-216del
ENST00000563588.5:c.557-220_557-216del	ENSP00000455607.1:n.557-220_557-216del
ENST00000563913.5:n.890-220_890-216del
ENST00000564838.5:n.931-628_931-624del
ENST00000565897.5:c.557-220_557-216del	ENSP00000457359.1:n.557-220_557-216del
ENST00000565924.5:c.557-220_557-216del	ENSP00000455091.1:n.557-220_557-216del
ENST00000569684.1:n.969-220_969-216del
NM_000294.2:c.557-220_557-216del	NP_000285.1:n.557-220_557-216del
NM_001172432.1:c.557-220_557-216del	NP_001165903.1:n.557-220_557-216del
NM_000294.3:c.557-220_557-216del MANE Select	NP_000285.1:n.557-220_557-216del
NM_001172432.2:c.557-220_557-216del	NP_001165903.1:n.557-220_557-216del