Canonical Allele Identifier: CA2632771321

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30756396-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756398del , CM000678.2:g.30756398del	GRCh38
NC_000016.9:g.30767719del , CM000678.1:g.30767719del	GRCh37
NC_000016.8:g.30675220del	NCBI36
NG_016616.1:g.13100del
NG_016616.2:g.13100del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.679del MANE Select	ENSP00000455607.1:p.Leu227TrpfsTer14
ENST00000328273.11:c.691del	ENSP00000329968.7:p.Leu231TrpfsTer14
ENST00000424889.7:c.679del	ENSP00000388571.3:p.Leu227TrpfsTer14
ENST00000563588.5:c.679del	ENSP00000455607.1:p.Leu227TrpfsTer14
ENST00000563913.5:n.1012del
ENST00000564838.5:n.931-192del
ENST00000565897.5:c.679del	ENSP00000457359.1:p.Leu227TrpfsTer14
ENST00000565924.5:c.679del	ENSP00000455091.1:p.Leu227TrpfsTer14
ENST00000569684.1:n.1103del
NM_000294.2:c.679del	NP_000285.1:p.Leu227TrpfsTer14
NM_001172432.1:c.679del	NP_001165903.1:p.Leu227TrpfsTer14
NM_000294.3:c.679del MANE Select	NP_000285.1:p.Leu227TrpfsTer14
NM_001172432.2:c.679del	NP_001165903.1:p.Leu227TrpfsTer14