Canonical Allele Identifier: CA2517606579

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756168T>G , CM000678.2:g.30756168T>G	GRCh38
NC_000016.9:g.30767489T>G , CM000678.1:g.30767489T>G	GRCh37
NC_000016.8:g.30674990T>G	NCBI36
NG_016616.1:g.12870T>G
NG_016616.2:g.12870T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-14T>G MANE Select	ENSP00000455607.1:n.557-14T>G
ENST00000328273.11:c.557-14T>G	ENSP00000329968.7:n.557-14T>G
ENST00000424889.7:c.557-14T>G	ENSP00000388571.3:n.557-14T>G
ENST00000563588.5:c.557-14T>G	ENSP00000455607.1:n.557-14T>G
ENST00000563913.5:n.890-14T>G
ENST00000564838.5:n.931-422T>G
ENST00000565897.5:c.557-14T>G	ENSP00000457359.1:n.557-14T>G
ENST00000565924.5:c.557-14T>G	ENSP00000455091.1:n.557-14T>G
ENST00000569684.1:n.969-14T>G
NM_000294.2:c.557-14T>G	NP_000285.1:n.557-14T>G
NM_001172432.1:c.557-14T>G	NP_001165903.1:n.557-14T>G
NM_000294.3:c.557-14T>G MANE Select	NP_000285.1:n.557-14T>G
NM_001172432.2:c.557-14T>G	NP_001165903.1:n.557-14T>G