Canonical Allele Identifier: CA210237

Gene: PI4K2B

Linked Data

• ClinVar Variation Id: 208928
• ClinVar RCV Id: RCV000201422
• dbSNP Id: rs143048917
• ExAC: 4:25260763 G / T
• gnomAD v2: 4-25260763-G-T
• gnomAD v3: 4-25259141-G-T
• gnomAD v4: 4-25259141-G-T
• MyVariant Identifiers: chr4:g.25260763G>T (hg19) ; chr4:g.25259141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25259141G>T , CM000666.2:g.25259141G>T	GRCh38
NC_000004.11:g.25260763G>T , CM000666.1:g.25260763G>T	GRCh37
NC_000004.10:g.24869861G>T	NCBI36
NG_052594.1:g.30111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264864.8:c.861G>T MANE Select	ENSP00000264864.6:p.Gln287His
ENST00000264864.7:c.861G>T	ENSP00000264864.6:p.Gln287His
ENST00000512921.4:c.573G>T	ENSP00000423373.1:p.Gln191His
NM_018323.3:c.861G>T	NP_060793.2:p.Gln287His
XM_005248174.1:c.846G>T	XP_005248231.1:p.Gln282His
XM_005248175.3:c.573G>T	XP_005248232.1:p.Gln191His
NR_144633.1:n.1009G>T
XM_005248174.2:c.846G>T	XP_005248231.1:p.Gln282His
XM_005248175.4:c.573G>T	XP_005248232.1:p.Gln191His
NM_018323.4:c.861G>T MANE Select	NP_060793.2:p.Gln287His
NR_144633.2:n.1007G>T