Canonical Allele Identifier: CA2575971667

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753429_30753430dup , CM000678.2:g.30753429_30753430dup	GRCh38
NC_000016.9:g.30764750_30764751dup , CM000678.1:g.30764750_30764751dup	GRCh37
NC_000016.8:g.30672251_30672252dup	NCBI36
NG_016616.1:g.10131_10132dup
NG_016616.2:g.10131_10132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.428_429dup MANE Select	ENSP00000455607.1:p.Leu144PhefsTer12
ENST00000328273.11:c.428_429dup	ENSP00000329968.7:p.Leu144PhefsTer12
ENST00000424889.7:c.428_429dup	ENSP00000388571.3:p.Leu144PhefsTer12
ENST00000561712.1:c.102_103dup
ENST00000563588.5:c.428_429dup	ENSP00000455607.1:p.Leu144PhefsTer12
ENST00000563607.1:c.*100_*101dup	ENSP00000454641.1:n.*100_*101dup
ENST00000563913.5:n.761_762dup
ENST00000564838.5:n.802_803dup
ENST00000565897.5:c.428_429dup	ENSP00000457359.1:p.Leu144PhefsTer12
ENST00000565924.5:c.428_429dup	ENSP00000455091.1:p.Leu144PhefsTer12
ENST00000569684.1:n.840_841dup
NM_000294.2:c.428_429dup	NP_000285.1:p.Leu144PhefsTer12
NM_001172432.1:c.428_429dup	NP_001165903.1:p.Leu144PhefsTer12
NM_000294.3:c.428_429dup MANE Select	NP_000285.1:p.Leu144PhefsTer12
NM_001172432.2:c.428_429dup	NP_001165903.1:p.Leu144PhefsTer12