Canonical Allele Identifier: CA3360129
Community Standard Title: NM_001276277.3(PPIP5K2):c.1294-17A>G
Gene: PPIP5K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.103154817A>G , CM000667.2:g.103154817A>G GRCh38
NC_000005.9:g.102490521A>G , CM000667.1:g.102490521A>G GRCh37
NC_000005.8:g.102518420A>G NCBI36
NG_051568.1:g.39570A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001276277.3:c.1294-17A>G MANE Select NP_001263206.1:n.1294-17A>G
ENST00000358359.8:c.1294-17A>G MANE Select ENSP00000351126.3:n.1294-17A>G
NM_001276277.1:c.1294-17A>G NP_001263206.1:n.1294-17A>G
NM_001276277.2:c.1294-17A>G NP_001263206.1:n.1294-17A>G
NM_001281471.1:c.1294-17A>G NP_001268400.1:n.1294-17A>G
NM_001281471.2:c.1294-17A>G NP_001268400.1:n.1294-17A>G
NM_001281471.3:c.1294-17A>G NP_001268400.1:n.1294-17A>G
NM_001345871.1:c.1294-17A>G NP_001332800.1:n.1294-17A>G
NM_001345871.2:c.1294-17A>G NP_001332800.1:n.1294-17A>G
NM_001345872.1:c.1294-17A>G NP_001332801.1:n.1294-17A>G
NM_001345872.2:c.1294-17A>G NP_001332801.1:n.1294-17A>G
NM_001345873.1:c.1294-17A>G NP_001332802.1:n.1294-17A>G
NM_001345873.2:c.1294-17A>G NP_001332802.1:n.1294-17A>G
NM_001345874.1:c.1294-17A>G NP_001332803.1:n.1294-17A>G
NM_001345874.2:c.1294-17A>G NP_001332803.1:n.1294-17A>G
NM_001345875.1:c.1294-17A>G NP_001332804.1:n.1294-17A>G
NM_001345875.2:c.1294-17A>G NP_001332804.1:n.1294-17A>G
NM_001345876.1:c.1294-17A>G NP_001332805.1:n.1294-17A>G
NM_001345876.2:c.1294-17A>G NP_001332805.1:n.1294-17A>G
NM_001345877.1:c.1294-17A>G NP_001332806.1:n.1294-17A>G
NM_001345877.2:c.1294-17A>G NP_001332806.1:n.1294-17A>G
NM_001345878.1:c.1294-17A>G NP_001332807.1:n.1294-17A>G
NM_001345878.2:c.1294-17A>G NP_001332807.1:n.1294-17A>G
NM_015216.3:c.1294-17A>G NP_056031.2:n.1294-17A>G
NM_015216.4:c.1294-17A>G NP_056031.2:n.1294-17A>G
NM_015216.5:c.1294-17A>G NP_056031.2:n.1294-17A>G
ENST00000321521.13:c.1294-17A>G ENSP00000313070.8:n.1294-17A>G
ENST00000358359.7:c.1294-17A>G ENSP00000351126.3:n.1294-17A>G
ENST00000414217.5:c.1294-17A>G ENSP00000416016.1:n.1294-17A>G
ENST00000507921.5:c.1060-17A>G ENSP00000422525.1:n.1060-17A>G
ENST00000613674.4:c.1294-17A>G ENSP00000482907.1:n.1294-17A>G
ENST00000627916.2:c.1294-17A>G ENSP00000486357.1:n.1294-17A>G
ENST00000698750.1:c.1294-17A>G ENSP00000513912.1:n.1294-17A>G
XM_005271935.1:c.1294-17A>G XP_005271992.1:n.1294-17A>G
XM_005271936.1:c.1294-17A>G XP_005271993.1:n.1294-17A>G
XM_005271938.1:c.1294-17A>G XP_005271995.1:n.1294-17A>G
XM_005277534.1:c.1294-17A>G XP_005277591.1:n.1294-17A>G
XM_005277534.2:c.1294-17A>G XP_005277591.1:n.1294-17A>G
XM_005277535.1:c.1294-17A>G XP_005277592.1:n.1294-17A>G
XM_005277535.2:c.1294-17A>G XP_005277592.1:n.1294-17A>G
XM_005277536.1:c.1294-17A>G XP_005277593.1:n.1294-17A>G
XM_005277536.2:c.1294-17A>G XP_005277593.1:n.1294-17A>G
XM_005277538.1:c.1294-17A>G XP_005277595.1:n.1294-17A>G
XM_005277539.1:c.1294-17A>G XP_005277596.1:n.1294-17A>G
XM_005277539.2:c.1294-17A>G XP_005277596.1:n.1294-17A>G
XM_005277541.1:c.1294-17A>G XP_005277598.1:n.1294-17A>G
XM_005277541.2:c.1294-17A>G XP_005277598.1:n.1294-17A>G
XM_006714576.1:c.1294-17A>G XP_006714639.1:n.1294-17A>G
XM_006714576.2:c.1294-17A>G XP_006714639.1:n.1294-17A>G
XM_006714577.1:c.1294-17A>G XP_006714640.1:n.1294-17A>G
XM_006714577.2:c.1294-17A>G XP_006714640.1:n.1294-17A>G
XM_011543290.1:c.1294-17A>G XP_011541592.1:n.1294-17A>G
XM_011543290.3:c.1294-17A>G XP_011541592.1:n.1294-17A>G
XM_017009273.2:c.1294-17A>G XP_016864762.1:n.1294-17A>G
XM_017009274.2:c.1294-17A>G XP_016864763.1:n.1294-17A>G