Canonical Allele Identifier: CA2580091494
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756365_30756367del , CM000678.2:g.30756365_30756367del GRCh38
NC_000016.9:g.30767686_30767688del , CM000678.1:g.30767686_30767688del GRCh37
NC_000016.8:g.30675187_30675189del NCBI36
NG_016616.1:g.13067_13069del
NG_016616.2:g.13067_13069del

Transcript Alleles

HGVS Amino-acid Change
NM_000294.2:c.648-2_648del
NM_000294.3:c.648-2_648del
NM_001172432.1:c.648-2_648del
NM_001172432.2:c.648-2_648del
ENST00000328273.11:c.658_660del ENSP00000329968.7:p.Ser220del
ENST00000424889.7:c.648-2_648del
ENST00000563588.5:c.648-2_648del
ENST00000563588.6:c.648-2_648del
ENST00000563913.5:n.981-2_981del
ENST00000564838.5:n.931-225_931-223del
ENST00000565897.5:c.648-2_648del
ENST00000565924.5:c.648-2_648del
ENST00000569684.1:n.1070_1072del