Canonical Allele Identifier: CA462448919

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2905922
• ClinVar RCV Id: RCV003606873
• dbSNP Id: rs1476065012
• gnomAD v2: 8-100779040-G-A
• gnomAD v4: 8-99766812-G-A
• MyVariant Identifiers: chr8:g.100779040G>A (hg19) ; chr8:g.99766812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766812G>A , CM000670.2:g.99766812G>A	GRCh38
NC_000008.10:g.100779040G>A , CM000670.1:g.100779040G>A	GRCh37
NC_000008.9:g.100848216G>A	NCBI36
NG_007098.2:g.758547G>A , LRG_351:g.758547G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7164G>A	ENSP00000507923.1:p.Lys2388=
ENST00000682358.1:n.7234G>A
ENST00000683334.1:c.*2846G>A	ENSP00000507369.1:n.*2846G>A
ENST00000357162.7:c.7089G>A MANE Select	ENSP00000349685.2:p.Lys2363=
ENST00000358544.7:c.7164G>A MANE Plus Clinical	ENSP00000351346.2:p.Lys2388=
ENST00000357162.6:c.7089G>A	ENSP00000349685.2:p.Lys2363=
ENST00000358544.6:c.7164G>A	ENSP00000351346.2:p.Lys2388=
ENST00000518569.1:n.219G>A
NM_017890.4:c.7164G>A , LRG_351t1:c.7164G>A	NP_060360.3:p.Lys2388=
NM_152564.4:c.7089G>A , LRG_351t2:c.7089G>A	NP_689777.3:p.Lys2363=
XM_005250800.2:c.7164G>A	XP_005250857.1:p.Lys2388=
XM_005250801.3:c.7164G>A	XP_005250858.1:p.Lys2388=
XM_011516848.1:c.7161G>A	XP_011515150.1:p.Lys2387=
XM_011516849.1:c.7086G>A	XP_011515151.1:p.Lys2362=
XM_011516850.1:c.6786G>A	XP_011515152.1:p.Lys2262=
XM_011516851.1:c.4050G>A	XP_011515153.1:p.Lys1350=
XM_011516852.1:c.4050G>A	XP_011515154.1:p.Lys1350=
XM_011516853.1:c.7164G>A	XP_011515155.1:p.Lys2388=
XM_011516854.1:c.2943G>A	XP_011515156.1:p.Lys981=
XR_928446.1:n.2065+3876C>T
XM_005250800.3:c.7164G>A	XP_005250857.1:p.Lys2388=
XM_005250801.5:c.7164G>A	XP_005250858.1:p.Lys2388=
XM_011516848.2:c.7161G>A	XP_011515150.1:p.Lys2387=
XM_011516849.2:c.7086G>A	XP_011515151.1:p.Lys2362=
XM_011516850.2:c.6786G>A	XP_011515152.1:p.Lys2262=
XM_011516851.2:c.4050G>A	XP_011515153.1:p.Lys1350=
XM_011516852.2:c.4050G>A	XP_011515154.1:p.Lys1350=
XM_011516853.2:c.7164G>A	XP_011515155.1:p.Lys2388=
XM_011516854.2:c.2943G>A	XP_011515156.1:p.Lys981=
XM_017013109.1:c.6969G>A	XP_016868598.1:p.Lys2323=
XM_017013111.1:c.4050G>A	XP_016868600.1:p.Lys1350=
XM_017013112.1:c.2721G>A	XP_016868601.1:p.Lys907=
XM_024447074.1:c.5949G>A	XP_024302842.1:p.Lys1983=
NM_017890.5:c.7164G>A MANE Plus Clinical	NP_060360.3:p.Lys2388=
NM_152564.5:c.7089G>A MANE Select	NP_689777.3:p.Lys2363=