Canonical Allele Identifier: CA2216731381

Gene: PHKG2

Linked Data

• dbSNP Id: rs2053425489
• gnomAD v4: 16-30756313-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756316del , CM000678.2:g.30756316del	GRCh38
NC_000016.9:g.30767637del , CM000678.1:g.30767637del	GRCh37
NC_000016.8:g.30675138del	NCBI36
NG_016616.1:g.13018del
NG_016616.2:g.13018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.647+44del MANE Select	ENSP00000455607.1:n.647+44del
ENST00000328273.11:c.648-39del	ENSP00000329968.7:n.648-39del
ENST00000424889.7:c.647+44del	ENSP00000388571.3:n.647+44del
ENST00000563588.5:c.647+44del	ENSP00000455607.1:n.647+44del
ENST00000563913.5:n.980+44del
ENST00000564838.5:n.931-274del
ENST00000565897.5:c.647+44del	ENSP00000457359.1:n.647+44del
ENST00000565924.5:c.647+44del	ENSP00000455091.1:n.647+44del
ENST00000569684.1:n.1060-39del
NM_000294.2:c.647+44del	NP_000285.1:n.647+44del
NM_001172432.1:c.647+44del	NP_001165903.1:n.647+44del
NM_000294.3:c.647+44del MANE Select	NP_000285.1:n.647+44del
NM_001172432.2:c.647+44del	NP_001165903.1:n.647+44del