Canonical Allele Identifier: CA2632771301

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30756318-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756319del , CM000678.2:g.30756319del	GRCh38
NC_000016.9:g.30767640del , CM000678.1:g.30767640del	GRCh37
NC_000016.8:g.30675141del	NCBI36
NG_016616.1:g.13021del
NG_016616.2:g.13021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.648-48del MANE Select	ENSP00000455607.1:n.648-48del
ENST00000328273.11:c.648-36del	ENSP00000329968.7:n.648-36del
ENST00000424889.7:c.648-48del	ENSP00000388571.3:n.648-48del
ENST00000563588.5:c.648-48del	ENSP00000455607.1:n.648-48del
ENST00000563913.5:n.981-48del
ENST00000564838.5:n.931-271del
ENST00000565897.5:c.648-48del	ENSP00000457359.1:n.648-48del
ENST00000565924.5:c.648-48del	ENSP00000455091.1:n.648-48del
ENST00000569684.1:n.1060-36del
NM_000294.2:c.648-48del	NP_000285.1:n.648-48del
NM_001172432.1:c.648-48del	NP_001165903.1:n.648-48del
NM_000294.3:c.648-48del MANE Select	NP_000285.1:n.648-48del
NM_001172432.2:c.648-48del	NP_001165903.1:n.648-48del