Canonical Allele Identifier: CA279238

Gene: PI4K2B

Linked Data

• ClinVar Variation Id: 208927
• ClinVar RCV Id: RCV000201382
• dbSNP Id: rs863223383
• gnomAD v4: 4-25234173-C-A
• MyVariant Identifiers: chr4:g.25235795C>A (hg19) ; chr4:g.25234173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25234173C>A , CM000666.2:g.25234173C>A	GRCh38
NC_000004.11:g.25235795C>A , CM000666.1:g.25235795C>A	GRCh37
NC_000004.10:g.24844893C>A	NCBI36
NG_052594.1:g.5143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264864.8:c.10C>A MANE Select	ENSP00000264864.6:p.Pro4Thr
ENST00000264864.7:c.10C>A	ENSP00000264864.6:p.Pro4Thr
ENST00000512921.4:c.-20-18148C>A	ENSP00000423373.1:n.-20-18148C>A
NM_018323.3:c.10C>A	NP_060793.2:p.Pro4Thr
XM_005248174.1:c.10C>A	XP_005248231.1:p.Pro4Thr
XM_011513855.1:c.10C>A	XP_011512157.1:p.Pro4Thr
NR_144633.1:n.143C>A
XM_005248174.2:c.10C>A	XP_005248231.1:p.Pro4Thr
NM_018323.4:c.10C>A MANE Select	NP_060793.2:p.Pro4Thr
NR_144633.2:n.141C>A