Canonical Allele Identifier: CA2632769570

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30753380-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753384del , CM000678.2:g.30753384del	GRCh38
NC_000016.9:g.30764705del , CM000678.1:g.30764705del	GRCh37
NC_000016.8:g.30672206del	NCBI36
NG_016616.1:g.10086del
NG_016616.2:g.10086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.393-10del MANE Select	ENSP00000455607.1:n.393-10del
ENST00000328273.11:c.393-10del	ENSP00000329968.7:n.393-10del
ENST00000424889.7:c.393-10del	ENSP00000388571.3:n.393-10del
ENST00000561712.1:c.67-10del
ENST00000563588.5:c.393-10del	ENSP00000455607.1:n.393-10del
ENST00000563607.1:c.*65-10del	ENSP00000454641.1:n.*65-10del
ENST00000563913.5:n.726-10del
ENST00000564838.5:n.767-10del
ENST00000565897.5:c.393-10del	ENSP00000457359.1:n.393-10del
ENST00000565924.5:c.393-10del	ENSP00000455091.1:n.393-10del
ENST00000569684.1:n.805-10del
NM_000294.2:c.393-10del	NP_000285.1:n.393-10del
NM_001172432.1:c.393-10del	NP_001165903.1:n.393-10del
NM_000294.3:c.393-10del MANE Select	NP_000285.1:n.393-10del
NM_001172432.2:c.393-10del	NP_001165903.1:n.393-10del