Canonical Allele Identifier: CA183039743

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1757440
• ClinVar RCV Id: RCV002378359 ; RCV003103366
• dbSNP Id: rs148385830
• gnomAD v2: 8-100779036-A-G
• gnomAD v3: 8-99766808-A-G
• gnomAD v4: 8-99766808-A-G
• MyVariant Identifiers: chr8:g.100779036A>G (hg19) ; chr8:g.99766808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766808A>G , CM000670.2:g.99766808A>G	GRCh38
NC_000008.10:g.100779036A>G , CM000670.1:g.100779036A>G	GRCh37
NC_000008.9:g.100848212A>G	NCBI36
NG_007098.2:g.758543A>G , LRG_351:g.758543A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7160A>G	ENSP00000507923.1:p.Gln2387Arg
ENST00000682358.1:n.7230A>G
ENST00000683334.1:c.*2842A>G	ENSP00000507369.1:n.*2842A>G
ENST00000357162.7:c.7085A>G MANE Select	ENSP00000349685.2:p.Gln2362Arg
ENST00000358544.7:c.7160A>G MANE Plus Clinical	ENSP00000351346.2:p.Gln2387Arg
ENST00000357162.6:c.7085A>G	ENSP00000349685.2:p.Gln2362Arg
ENST00000358544.6:c.7160A>G	ENSP00000351346.2:p.Gln2387Arg
ENST00000518569.1:n.215A>G
NM_017890.4:c.7160A>G , LRG_351t1:c.7160A>G	NP_060360.3:p.Gln2387Arg
NM_152564.4:c.7085A>G , LRG_351t2:c.7085A>G	NP_689777.3:p.Gln2362Arg
XM_005250800.2:c.7160A>G	XP_005250857.1:p.Gln2387Arg
XM_005250801.3:c.7160A>G	XP_005250858.1:p.Gln2387Arg
XM_011516848.1:c.7157A>G	XP_011515150.1:p.Gln2386Arg
XM_011516849.1:c.7082A>G	XP_011515151.1:p.Gln2361Arg
XM_011516850.1:c.6782A>G	XP_011515152.1:p.Gln2261Arg
XM_011516851.1:c.4046A>G	XP_011515153.1:p.Gln1349Arg
XM_011516852.1:c.4046A>G	XP_011515154.1:p.Gln1349Arg
XM_011516853.1:c.7160A>G	XP_011515155.1:p.Gln2387Arg
XM_011516854.1:c.2939A>G	XP_011515156.1:p.Gln980Arg
XR_928446.1:n.2065+3880T>C
XM_005250800.3:c.7160A>G	XP_005250857.1:p.Gln2387Arg
XM_005250801.5:c.7160A>G	XP_005250858.1:p.Gln2387Arg
XM_011516848.2:c.7157A>G	XP_011515150.1:p.Gln2386Arg
XM_011516849.2:c.7082A>G	XP_011515151.1:p.Gln2361Arg
XM_011516850.2:c.6782A>G	XP_011515152.1:p.Gln2261Arg
XM_011516851.2:c.4046A>G	XP_011515153.1:p.Gln1349Arg
XM_011516852.2:c.4046A>G	XP_011515154.1:p.Gln1349Arg
XM_011516853.2:c.7160A>G	XP_011515155.1:p.Gln2387Arg
XM_011516854.2:c.2939A>G	XP_011515156.1:p.Gln980Arg
XM_017013109.1:c.6965A>G	XP_016868598.1:p.Gln2322Arg
XM_017013111.1:c.4046A>G	XP_016868600.1:p.Gln1349Arg
XM_017013112.1:c.2717A>G	XP_016868601.1:p.Gln906Arg
XM_024447074.1:c.5945A>G	XP_024302842.1:p.Gln1982Arg
NM_017890.5:c.7160A>G MANE Plus Clinical	NP_060360.3:p.Gln2387Arg
NM_152564.5:c.7085A>G MANE Select	NP_689777.3:p.Gln2362Arg