Canonical Allele Identifier: CA395658508
Gene: PHKG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756274T>G , CM000678.2:g.30756274T>G GRCh38
NC_000016.9:g.30767595T>G , CM000678.1:g.30767595T>G GRCh37
NC_000016.8:g.30675096T>G NCBI36
NG_016616.1:g.12976T>G
NG_016616.2:g.12976T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.647+2T>G MANE Select ENSP00000455607.1:n.647+2T>G
ENST00000328273.11:c.647+2T>G ENSP00000329968.7:n.647+2T>G
ENST00000424889.7:c.647+2T>G ENSP00000388571.3:n.647+2T>G
ENST00000563588.5:c.647+2T>G ENSP00000455607.1:n.647+2T>G
ENST00000563913.5:n.980+2T>G
ENST00000564838.5:n.931-316T>G
ENST00000565897.5:c.647+2T>G ENSP00000457359.1:n.647+2T>G
ENST00000565924.5:c.647+2T>G ENSP00000455091.1:n.647+2T>G
ENST00000569684.1:n.1059+2T>G
NM_000294.2:c.647+2T>G NP_000285.1:n.647+2T>G
NM_001172432.1:c.647+2T>G NP_001165903.1:n.647+2T>G
NM_000294.3:c.647+2T>G MANE Select NP_000285.1:n.647+2T>G
NM_001172432.2:c.647+2T>G NP_001165903.1:n.647+2T>G