Canonical Allele Identifier: CA123304
Gene: PHKG2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13631
ClinVar RCV Id: RCV000014601
dbSNP Id: rs137853592

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756396T>G , CM000678.2:g.30756396T>G GRCh38
NC_000016.9:g.30767717T>G , CM000678.1:g.30767717T>G GRCh37
NC_000016.8:g.30675218T>G NCBI36
NG_016616.1:g.13098T>G

Transcript Alleles

HGVS Amino-acid change
NM_000294.2:c.677T>G VV NP_000285.1:p.Leu226Arg
NM_001172432.1:c.677T>G VV NP_001165903.1:p.Leu226Arg
NM_000294.3:c.677T>G VV MANE Preferred NP_000285.1:p.Leu226Arg
ENST00000328273.11:c.689T>G ENSP00000329968.7:p.Leu230Arg
ENST00000424889.7:c.677T>G ENSP00000388571.3:p.Leu226Arg
ENST00000563588.5:c.677T>G ENSP00000455607.1:p.Leu226Arg
ENST00000563913.5:n.1010T>G
ENST00000564838.5:n.931-194T>G
ENST00000565897.5:c.677T>G ENSP00000457359.1:p.Leu226Arg
ENST00000565924.5:c.677T>G ENSP00000455091.1:p.Leu226Arg
ENST00000569684.1:n.1101T>G