Canonical Allele Identifier: CA2216725954

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753522_30753525delinsTCTC , CM000678.2:g.30753522_30753525delinsTCTC	GRCh38
NC_000016.9:g.30764843_30764846delinsTCTC , CM000678.1:g.30764843_30764846delinsTCTC	GRCh37
NC_000016.8:g.30672344_30672347delinsTCTC	NCBI36
NG_016616.1:g.10224_10227delinsTCTC
NG_016616.2:g.10224_10227delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.521_524delinsTCTC MANE Select	ENSP00000455607.1:p.Phe174=
ENST00000328273.11:c.521_524delinsTCTC	ENSP00000329968.7:p.Phe174=
ENST00000424889.7:c.521_524delinsTCTC	ENSP00000388571.3:p.Phe174=
ENST00000561712.1:c.195_198delinsTCTC
ENST00000563588.5:c.521_524delinsTCTC	ENSP00000455607.1:p.Phe174=
ENST00000563607.1:c.*193_*196delinsTCTC	ENSP00000454641.1:n.*193_*196delinsTCTC
ENST00000563913.5:n.854_857delinsTCTC
ENST00000564838.5:n.895_898delinsTCTC
ENST00000565897.5:c.521_524delinsTCTC	ENSP00000457359.1:p.Phe174=
ENST00000565924.5:c.521_524delinsTCTC	ENSP00000455091.1:p.Phe174=
ENST00000569684.1:n.933_936delinsTCTC
NM_000294.2:c.521_524delinsTCTC	NP_000285.1:p.Phe174=
NM_001172432.1:c.521_524delinsTCTC	NP_001165903.1:p.Phe174=
NM_000294.3:c.521_524delinsTCTC MANE Select	NP_000285.1:p.Phe174=
NM_001172432.2:c.521_524delinsTCTC	NP_001165903.1:p.Phe174=