Canonical Allele Identifier: CA2216731802
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756479_30756482delinsTCCC , CM000678.2:g.30756479_30756482delinsTCCC GRCh38
NC_000016.9:g.30767800_30767803delinsTCCC , CM000678.1:g.30767800_30767803delinsTCCC GRCh37
NC_000016.8:g.30675301_30675304delinsTCCC NCBI36
NG_016616.1:g.13181_13184delinsTCCC
NG_016616.2:g.13181_13184delinsTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.760_763delinsTCCC MANE Select ENSP00000455607.1:p.Ser254=
ENST00000328273.11:c.772_775delinsTCCC ENSP00000329968.7:p.Ser258=
ENST00000424889.7:c.760_763delinsTCCC ENSP00000388571.3:p.Ser254=
ENST00000563588.5:c.760_763delinsTCCC ENSP00000455607.1:p.Ser254=
ENST00000563913.5:n.1093_1096delinsTCCC
ENST00000564838.5:n.931-111_931-108delinsTCCC
ENST00000565897.5:c.760_763delinsTCCC ENSP00000457359.1:p.Ser254=
ENST00000565924.5:c.760_763delinsTCCC ENSP00000455091.1:p.Ser254=
NM_000294.2:c.760_763delinsTCCC NP_000285.1:p.Ser254=
NM_001172432.1:c.760_763delinsTCCC NP_001165903.1:p.Ser254=
NM_000294.3:c.760_763delinsTCCC MANE Select NP_000285.1:p.Ser254=
NM_001172432.2:c.760_763delinsTCCC NP_001165903.1:p.Ser254=