Canonical Allele Identifier: CA8013208

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 318939
• ClinVar RCV Id: RCV000326951
• dbSNP Id: rs767789467
• ExAC: 16:30764880 T / TGA
• gnomAD v2: 16-30764880-T-TGA
• gnomAD v3: 16-30753559-T-TGA
• gnomAD v4: 16-30753559-T-TGA
• MyVariant Identifiers: chr16:g.30764882_30764883dupAG (hg19) ; chr16:g.30764880_30764881insGA (hg19) ; chr16:g.30753561_30753562dupAG (hg38) ; chr16:g.30753559_30753560insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753561_30753562dup , CM000678.2:g.30753561_30753562dup	GRCh38
NC_000016.9:g.30764882_30764883dup , CM000678.1:g.30764882_30764883dup	GRCh37
NC_000016.8:g.30672383_30672384dup	NCBI36
NG_016616.1:g.10263_10264dup
NG_016616.2:g.10263_10264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.556+4_556+5dup MANE Select	ENSP00000455607.1:n.556+4_556+5dup
ENST00000328273.11:c.556+4_556+5dup	ENSP00000329968.7:n.556+4_556+5dup
ENST00000424889.7:c.556+4_556+5dup	ENSP00000388571.3:n.556+4_556+5dup
ENST00000561712.1:c.230+4_230+5dup
ENST00000563588.5:c.556+4_556+5dup	ENSP00000455607.1:n.556+4_556+5dup
ENST00000563913.5:n.889+4_889+5dup
ENST00000564838.5:n.930+4_930+5dup
ENST00000565897.5:c.556+4_556+5dup	ENSP00000457359.1:n.556+4_556+5dup
ENST00000565924.5:c.556+4_556+5dup	ENSP00000455091.1:n.556+4_556+5dup
ENST00000569684.1:n.968+4_968+5dup
NM_000294.2:c.556+4_556+5dup	NP_000285.1:n.556+4_556+5dup
NM_001172432.1:c.556+4_556+5dup	NP_001165903.1:n.556+4_556+5dup
NM_000294.3:c.556+4_556+5dup MANE Select	NP_000285.1:n.556+4_556+5dup
NM_001172432.2:c.556+4_556+5dup	NP_001165903.1:n.556+4_556+5dup