Canonical Allele Identifier: CA13185126

Gene: PIP4K2A

Linked Data

• dbSNP Id: rs746203
• gnomAD v2: 10-22830541-C-T
• gnomAD v3: 10-22541612-C-T
• gnomAD v4: 10-22541612-C-T
• MyVariant Identifiers: chr10:g.22830541C>T (hg19) ; chr10:g.22541612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.22541612C>T , CM000672.2:g.22541612C>T	GRCh38
NC_000010.10:g.22830541C>T , CM000672.1:g.22830541C>T	GRCh37
NC_000010.9:g.22870547C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376573.9:c.1036+192G>A MANE Select	ENSP00000365757.4:n.1036+192G>A
ENST00000323883.11:c.616+192G>A	ENSP00000326294.7:n.616+192G>A
ENST00000376573.8:c.1036+192G>A	ENSP00000365757.4:n.1036+192G>A
ENST00000545335.5:c.859+192G>A	ENSP00000442098.1:n.859+192G>A
NM_005028.4:c.1036+192G>A	NP_005019.2:n.1036+192G>A
XM_006717450.2:c.883+192G>A	XP_006717513.1:n.883+192G>A
XM_011519494.1:c.997+192G>A	XP_011517796.1:n.997+192G>A
XM_011519495.1:c.949+192G>A	XP_011517797.1:n.949+192G>A
XM_011519496.1:c.859+192G>A	XP_011517798.1:n.859+192G>A
NM_001330062.1:c.859+192G>A	NP_001316991.1:n.859+192G>A
XM_017016330.1:c.859+192G>A	XP_016871819.1:n.859+192G>A
XM_017016331.1:c.859+192G>A	XP_016871820.1:n.859+192G>A
XM_017016332.1:c.706+192G>A	XP_016871821.1:n.706+192G>A
NM_005028.5:c.1036+192G>A MANE Select	NP_005019.2:n.1036+192G>A
NM_001330062.2:c.859+192G>A	NP_001316991.1:n.859+192G>A