Canonical Allele Identifier: CA13304916

Gene: PIP4K2A

Linked Data

• dbSNP Id: rs7094131
• gnomAD v2: 10-22847439-C-T
• gnomAD v3: 10-22558510-C-T
• gnomAD v4: 10-22558510-C-T
• MyVariant Identifiers: chr10:g.22847439C>T (hg19) ; chr10:g.22558510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.22558510C>T , CM000672.2:g.22558510C>T	GRCh38
NC_000010.10:g.22847439C>T , CM000672.1:g.22847439C>T	GRCh37
NC_000010.9:g.22887445C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376573.9:c.679-7738G>A MANE Select	ENSP00000365757.4:n.679-7738G>A
ENST00000323883.11:c.259-7738G>A	ENSP00000326294.7:n.259-7738G>A
ENST00000376573.8:c.679-7738G>A	ENSP00000365757.4:n.679-7738G>A
ENST00000545335.5:c.502-7738G>A	ENSP00000442098.1:n.502-7738G>A
ENST00000604912.1:c.217-7738G>A	ENSP00000473858.1:n.217-7738G>A
NM_005028.4:c.679-7738G>A	NP_005019.2:n.679-7738G>A
XM_006717450.2:c.526-7738G>A	XP_006717513.1:n.526-7738G>A
XM_011519494.1:c.640-7738G>A	XP_011517796.1:n.640-7738G>A
XM_011519495.1:c.592-7738G>A	XP_011517797.1:n.592-7738G>A
XM_011519496.1:c.502-7738G>A	XP_011517798.1:n.502-7738G>A
NM_001330062.1:c.502-7738G>A	NP_001316991.1:n.502-7738G>A
XM_017016330.1:c.502-7738G>A	XP_016871819.1:n.502-7738G>A
XM_017016331.1:c.502-7738G>A	XP_016871820.1:n.502-7738G>A
XM_017016332.1:c.349-7738G>A	XP_016871821.1:n.349-7738G>A
NM_005028.5:c.679-7738G>A MANE Select	NP_005019.2:n.679-7738G>A
NM_001330062.2:c.502-7738G>A	NP_001316991.1:n.502-7738G>A