Canonical Allele Identifier: CA622169820

Gene: PHKG2

Linked Data

• dbSNP Id: rs1242331805
• gnomAD v2: 16-30767420-TGAG-T
• gnomAD v3: 16-30756099-TGAG-T
• gnomAD v4: 16-30756099-TGAG-T
• MyVariant Identifiers: chr16:g.30767421_30767423del (hg19) ; chr16:g.30756100_30756102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756104_30756106del , CM000678.2:g.30756104_30756106del	GRCh38
NC_000016.9:g.30767425_30767427del , CM000678.1:g.30767425_30767427del	GRCh37
NC_000016.8:g.30674926_30674928del	NCBI36
NG_016616.1:g.12806_12808del
NG_016616.2:g.12806_12808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-78_557-76del MANE Select	ENSP00000455607.1:n.557-78_557-76del
ENST00000328273.11:c.557-78_557-76del	ENSP00000329968.7:n.557-78_557-76del
ENST00000424889.7:c.557-78_557-76del	ENSP00000388571.3:n.557-78_557-76del
ENST00000563588.5:c.557-78_557-76del	ENSP00000455607.1:n.557-78_557-76del
ENST00000563913.5:n.890-78_890-76del
ENST00000564838.5:n.931-486_931-484del
ENST00000565897.5:c.557-78_557-76del	ENSP00000457359.1:n.557-78_557-76del
ENST00000565924.5:c.557-78_557-76del	ENSP00000455091.1:n.557-78_557-76del
ENST00000569684.1:n.969-78_969-76del
NM_000294.2:c.557-78_557-76del	NP_000285.1:n.557-78_557-76del
NM_001172432.1:c.557-78_557-76del	NP_001165903.1:n.557-78_557-76del
NM_000294.3:c.557-78_557-76del MANE Select	NP_000285.1:n.557-78_557-76del
NM_001172432.2:c.557-78_557-76del	NP_001165903.1:n.557-78_557-76del