Canonical Allele Identifier: CA8013141

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753262C>G , CM000678.2:g.30753262C>G	GRCh38
NC_000016.9:g.30764583C>G , CM000678.1:g.30764583C>G	GRCh37
NC_000016.8:g.30672084C>G	NCBI36
NG_016616.1:g.9964C>G
NG_016616.2:g.9964C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000294.3:c.357C>G MANE Select	NP_000285.1:p.Leu119=
ENST00000563588.6:c.357C>G MANE Select	ENSP00000455607.1:p.Leu119=
NM_000294.2:c.357C>G	NP_000285.1:p.Leu119=
NM_001172432.1:c.357C>G	NP_001165903.1:p.Leu119=
NM_001172432.2:c.357C>G	NP_001165903.1:p.Leu119=
ENST00000328273.11:c.357C>G	ENSP00000329968.7:p.Leu119=
ENST00000424889.7:c.357C>G	ENSP00000388571.3:p.Leu119=
ENST00000561712.1:c.31C>G
ENST00000563588.5:c.357C>G	ENSP00000455607.1:p.Leu119=
ENST00000563607.1:c.*29C>G	ENSP00000454641.1:n.*29C>G
ENST00000563913.5:n.690C>G
ENST00000564838.5:n.731C>G
ENST00000565897.5:c.357C>G	ENSP00000457359.1:p.Leu119=
ENST00000565924.5:c.357C>G	ENSP00000455091.1:p.Leu119=
ENST00000569684.1:n.769C>G