Canonical Allele Identifier: CA622169819

Gene: PHKG2

Linked Data

• dbSNP Id: rs776611188
• gnomAD v2: 16-30767800-TC-T
• gnomAD v4: 16-30756479-TC-T
• MyVariant Identifiers: chr16:g.30767803del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756484del , CM000678.2:g.30756484del	GRCh38
NC_000016.9:g.30767805del , CM000678.1:g.30767805del	GRCh37
NC_000016.8:g.30675306del	NCBI36
NG_016616.1:g.13186del
NG_016616.2:g.13186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.765del MANE Select	ENSP00000455607.1:p.Glu256SerfsTer12
ENST00000328273.11:c.777del	ENSP00000329968.7:p.Glu260SerfsTer12
ENST00000424889.7:c.765del	ENSP00000388571.3:p.Glu256SerfsTer12
ENST00000563588.5:c.765del	ENSP00000455607.1:p.Glu256SerfsTer12
ENST00000563913.5:n.1098del
ENST00000564838.5:n.931-106del
ENST00000565897.5:c.765del	ENSP00000457359.1:p.Glu256SerfsTer?
NM_000294.2:c.765del	NP_000285.1:p.Glu256SerfsTer12
NM_001172432.1:c.765del	NP_001165903.1:p.Glu256SerfsTer12
NM_000294.3:c.765del MANE Select	NP_000285.1:p.Glu256SerfsTer12
NM_001172432.2:c.765del	NP_001165903.1:p.Glu256SerfsTer12