Canonical Allele Identifier: CA2632771110

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30756189-T-TGGGACC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756190_30756195dup , CM000678.2:g.30756190_30756195dup	GRCh38
NC_000016.9:g.30767511_30767516dup , CM000678.1:g.30767511_30767516dup	GRCh37
NC_000016.8:g.30675012_30675017dup	NCBI36
NG_016616.1:g.12892_12897dup
NG_016616.2:g.12892_12897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.565_570dup MANE Select	ENSP00000455607.1:p.Thr190_Pro191insGlyThr
ENST00000328273.11:c.565_570dup	ENSP00000329968.7:p.Thr190_Pro191insGlyThr
ENST00000424889.7:c.565_570dup	ENSP00000388571.3:p.Thr190_Pro191insGlyThr
ENST00000563588.5:c.565_570dup	ENSP00000455607.1:p.Thr190_Pro191insGlyThr
ENST00000563913.5:n.898_903dup
ENST00000564838.5:n.931-400_931-395dup
ENST00000565897.5:c.565_570dup	ENSP00000457359.1:p.Thr190_Pro191insGlyThr
ENST00000565924.5:c.565_570dup	ENSP00000455091.1:p.Thr190_Pro191insGlyThr
ENST00000569684.1:n.977_982dup
NM_000294.2:c.565_570dup	NP_000285.1:p.Thr190_Pro191insGlyThr
NM_001172432.1:c.565_570dup	NP_001165903.1:p.Thr190_Pro191insGlyThr
NM_000294.3:c.565_570dup MANE Select	NP_000285.1:p.Thr190_Pro191insGlyThr
NM_001172432.2:c.565_570dup	NP_001165903.1:p.Thr190_Pro191insGlyThr