Canonical Allele Identifier: CA3000266978
Community Standard Title: NM_000294.3(PHKG2):c.176dup (p.Glu60Ter)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30751186dup , CM000678.2:g.30751186dup GRCh38
NC_000016.9:g.30762507dup , CM000678.1:g.30762507dup GRCh37
NC_000016.8:g.30670008dup NCBI36
NG_016616.1:g.7888dup
NG_016616.2:g.7888dup

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.176dup MANE Select NP_000285.1:p.Glu60Ter
ENST00000563588.6:c.176dup MANE Select ENSP00000455607.1:p.Glu60Ter
NM_000294.2:c.176dup NP_000285.1:p.Glu60Ter
NM_001172432.1:c.176dup NP_001165903.1:p.Glu60Ter
NM_001172432.2:c.176dup NP_001165903.1:p.Glu60Ter
ENST00000328273.11:c.176dup ENSP00000329968.7:p.Glu60Ter
ENST00000424889.7:c.176dup ENSP00000388571.3:p.Glu60Ter
ENST00000563588.5:c.176dup ENSP00000455607.1:p.Glu60Ter
ENST00000563607.1:c.176dup ENSP00000454641.1:p.Glu60Ter
ENST00000563913.5:n.242dup
ENST00000564838.5:n.283dup
ENST00000565897.5:c.176dup ENSP00000457359.1:p.Glu60Ter
ENST00000565924.5:c.176dup ENSP00000455091.1:p.Glu60Ter
ENST00000569762.1:n.153dup