Canonical Allele Identifier: CA8013212

Gene: PHKG2

Linked Data

• dbSNP Id: rs775875751
• ExAC: 16:30764888 T / TC
• gnomAD v2: 16-30764888-T-TC
• gnomAD v4: 16-30753567-T-TC
• MyVariant Identifiers: chr16:g.30764888_30764889insC (hg19) ; chr16:g.30753567_30753568insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753568dup , CM000678.2:g.30753568dup	GRCh38
NC_000016.9:g.30764889dup , CM000678.1:g.30764889dup	GRCh37
NC_000016.8:g.30672390dup	NCBI36
NG_016616.1:g.10270dup
NG_016616.2:g.10270dup

Transcript Alleles

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