Canonical Allele Identifier: CA2632771102

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30756169-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756173_30756176del , CM000678.2:g.30756173_30756176del	GRCh38
NC_000016.9:g.30767494_30767497del , CM000678.1:g.30767494_30767497del	GRCh37
NC_000016.8:g.30674995_30674998del	NCBI36
NG_016616.1:g.12875_12878del
NG_016616.2:g.12875_12878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-9_557-6del MANE Select	ENSP00000455607.1:n.557-9_557-6del
ENST00000328273.11:c.557-9_557-6del	ENSP00000329968.7:n.557-9_557-6del
ENST00000424889.7:c.557-9_557-6del	ENSP00000388571.3:n.557-9_557-6del
ENST00000563588.5:c.557-9_557-6del	ENSP00000455607.1:n.557-9_557-6del
ENST00000563913.5:n.890-9_890-6del
ENST00000564838.5:n.931-417_931-414del
ENST00000565897.5:c.557-9_557-6del	ENSP00000457359.1:n.557-9_557-6del
ENST00000565924.5:c.557-9_557-6del	ENSP00000455091.1:n.557-9_557-6del
ENST00000569684.1:n.969-9_969-6del
NM_000294.2:c.557-9_557-6del	NP_000285.1:n.557-9_557-6del
NM_001172432.1:c.557-9_557-6del	NP_001165903.1:n.557-9_557-6del
NM_000294.3:c.557-9_557-6del MANE Select	NP_000285.1:n.557-9_557-6del
NM_001172432.2:c.557-9_557-6del	NP_001165903.1:n.557-9_557-6del