Canonical Allele Identifier: CA2632770224

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30753640-TCCCTGGTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753642_30753650del , CM000678.2:g.30753642_30753650del	GRCh38
NC_000016.9:g.30764963_30764971del , CM000678.1:g.30764963_30764971del	GRCh37
NC_000016.8:g.30672464_30672472del	NCBI36
NG_016616.1:g.10344_10352del
NG_016616.2:g.10344_10352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.556+85_556+93del MANE Select	ENSP00000455607.1:n.556+85_556+93del
ENST00000328273.11:c.556+85_556+93del	ENSP00000329968.7:n.556+85_556+93del
ENST00000424889.7:c.556+85_556+93del	ENSP00000388571.3:n.556+85_556+93del
ENST00000561712.1:c.230+85_230+93del
ENST00000563588.5:c.556+85_556+93del	ENSP00000455607.1:n.556+85_556+93del
ENST00000563913.5:n.889+85_889+93del
ENST00000564838.5:n.930+85_930+93del
ENST00000565897.5:c.556+85_556+93del	ENSP00000457359.1:n.556+85_556+93del
ENST00000565924.5:c.556+85_556+93del	ENSP00000455091.1:n.556+85_556+93del
ENST00000569684.1:n.968+85_968+93del
NM_000294.2:c.556+85_556+93del	NP_000285.1:n.556+85_556+93del
NM_001172432.1:c.556+85_556+93del	NP_001165903.1:n.556+85_556+93del
NM_000294.3:c.556+85_556+93del MANE Select	NP_000285.1:n.556+85_556+93del
NM_001172432.2:c.556+85_556+93del	NP_001165903.1:n.556+85_556+93del