Canonical Allele Identifier: CA719868232

Gene: PHKG2

Linked Data

• dbSNP Id: rs1382654427
• gnomAD v3: 16-30753112-GTT-G
• gnomAD v4: 16-30753112-GTT-G
• MyVariant Identifiers: chr16:g.30764434_30764435del (hg19) ; chr16:g.30753113_30753114del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753114_30753115del , CM000678.2:g.30753114_30753115del	GRCh38
NC_000016.9:g.30764435_30764436del , CM000678.1:g.30764435_30764436del	GRCh37
NC_000016.8:g.30671936_30671937del	NCBI36
NG_016616.1:g.9816_9817del
NG_016616.2:g.9816_9817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.327-118_327-117del MANE Select	ENSP00000455607.1:n.327-118_327-117del
ENST00000328273.11:c.327-118_327-117del	ENSP00000329968.7:n.327-118_327-117del
ENST00000424889.7:c.327-118_327-117del	ENSP00000388571.3:n.327-118_327-117del
ENST00000563588.5:c.327-118_327-117del	ENSP00000455607.1:n.327-118_327-117del
ENST00000563607.1:c.263-118_263-117del	ENSP00000454641.1:n.263-118_263-117del
ENST00000563913.5:n.660-118_660-117del
ENST00000564838.5:n.701-118_701-117del
ENST00000565897.5:c.327-118_327-117del	ENSP00000457359.1:n.327-118_327-117del
ENST00000565924.5:c.327-118_327-117del	ENSP00000455091.1:n.327-118_327-117del
ENST00000569684.1:n.621_622del
NM_000294.2:c.327-118_327-117del	NP_000285.1:n.327-118_327-117del
NM_001172432.1:c.327-118_327-117del	NP_001165903.1:n.327-118_327-117del
NM_000294.3:c.327-118_327-117del MANE Select	NP_000285.1:n.327-118_327-117del
NM_001172432.2:c.327-118_327-117del	NP_001165903.1:n.327-118_327-117del