Canonical Allele Identifier: CA402325666

Gene: SETBP1

Linked Data

• ClinVar Variation Id: 984999
• ClinVar RCV Id: RCV001265680
• dbSNP Id: rs2071410989
• MyVariant Identifiers: chr18:g.42533307T>G (hg19) ; chr18:g.44953342T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.44953342T>G , CM000680.2:g.44953342T>G	GRCh38
NC_000018.9:g.42533307T>G , CM000680.1:g.42533307T>G	GRCh37
NC_000018.8:g.40787305T>G	NCBI36
NG_027527.1:g.278170T>G
NG_027527.2:g.278170T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649279.2:c.4000+2T>G MANE Select	ENSP00000497406.1:n.4000+2T>G
ENST00000677068.1:c.4000+2T>G	ENSP00000504398.1:n.4000+2T>G
ENST00000677077.1:c.4000+2T>G	ENSP00000503656.1:n.4000+2T>G
ENST00000677130.1:c.4000+2T>G	ENSP00000503094.1:n.4000+2T>G
ENST00000677699.1:c.4000+2T>G	ENSP00000503964.1:n.4000+2T>G
ENST00000678152.1:c.4000+2T>G	ENSP00000502995.1:n.4000+2T>G
ENST00000282030.5:c.4000+2T>G	ENSP00000282030.5:n.4000+2T>G
NM_015559.2:c.4000+2T>G	NP_056374.2:n.4000+2T>G
XM_005258243.3:c.4000+2T>G	XP_005258300.1:n.4000+2T>G
NM_015559.3:c.4000+2T>G MANE Select	NP_056374.2:n.4000+2T>G
XM_024451149.1:c.4078+2T>G	XP_024306917.1:n.4078+2T>G
XM_024451150.1:c.4078+2T>G	XP_024306918.1:n.4078+2T>G
XM_024451151.1:c.4078+2T>G	XP_024306919.1:n.4078+2T>G
XM_024451152.1:c.4078+2T>G	XP_024306920.1:n.4078+2T>G
XM_024451153.1:c.4000+2T>G	XP_024306921.1:n.4000+2T>G
XM_024451154.1:c.4000+2T>G	XP_024306922.1:n.4000+2T>G
XM_024451155.1:c.4000+2T>G	XP_024306923.1:n.4000+2T>G
XM_024451156.1:c.4078+2T>G	XP_024306924.1:n.4078+2T>G
XM_024451157.1:c.3523+2T>G	XP_024306925.1:n.3523+2T>G
XM_024451158.1:c.4078+2T>G	XP_024306926.1:n.4078+2T>G
NM_001379141.1:c.4000+2T>G	NP_001366070.1:n.4000+2T>G
NM_001379142.1:c.4000+2T>G	NP_001366071.1:n.4000+2T>G