Canonical Allele Identifier: CA5437287
Gene: PIP4K2A HGNC NCBI
COSMIC:
COSM3751689 (not active)
MyVariant.info:
GRCh38 chr10:g.22550699T>C
GRCh37 chr10:g.22839628T>C
Revel Score:
ENST00000376573 (MANE Select) 0.073
ENST00000323883 0.073
ENST00000545335 0.073
gnomAD v2:
10:22839628 T / C
gnomAD v3:
10:22550699 T / C
gnomAD v4:
chr10-22550699-T-C
Joint Max Group AF 0.39680099 (EAS)
Genomes Max Group AF 0.3944168 (EAS)
Exomes Max Group AF 0.39555461 (EAS)
dbSNP:
2230469
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.22550699T>C , CM000672.2:g.22550699T>C GRCh38
NC_000010.10:g.22839628T>C , CM000672.1:g.22839628T>C GRCh37
NC_000010.9:g.22879634T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376573.9:c.752A>G MANE Select ENSP00000365757.4:p.Asn251Ser
ENST00000323883.11:c.332A>G ENSP00000326294.7:p.Asn111Ser
ENST00000376573.8:c.752A>G ENSP00000365757.4:p.Asn251Ser
ENST00000545335.5:c.575A>G ENSP00000442098.1:p.Asn192Ser
ENST00000604912.1:c.290A>G ENSP00000473858.1:p.Asn97Ser
NM_005028.4:c.752A>G NP_005019.2:p.Asn251Ser
XM_006717450.2:c.599A>G XP_006717513.1:p.Asn200Ser
XM_011519494.1:c.713A>G XP_011517796.1:p.Asn238Ser
XM_011519495.1:c.665A>G XP_011517797.1:p.Asn222Ser
XM_011519496.1:c.575A>G XP_011517798.1:p.Asn192Ser
NM_001330062.1:c.575A>G NP_001316991.1:p.Asn192Ser
XM_017016330.1:c.575A>G XP_016871819.1:p.Asn192Ser
XM_017016331.1:c.575A>G XP_016871820.1:p.Asn192Ser
XM_017016332.1:c.422A>G XP_016871821.1:p.Asn141Ser
NM_005028.5:c.752A>G MANE Select NP_005019.2:p.Asn251Ser
NM_001330062.2:c.575A>G NP_001316991.1:p.Asn192Ser
Search 100 bp 5'
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