Canonical Allele Identifier: CA16602959
Gene: SF3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 376531
ClinVar RCV Id: RCV000423874 RCV000428737 RCV000434162 RCV000438957
dbSNP Id: rs1057519959
MyVariant Identifiers: chr11:g.65830499A>C (hg19) chr11:g.66063028A>C (hg38)
PubMed: PMID:26619011
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66063028A>C , CM000673.2:g.66063028A>C GRCh38
NC_000011.9:g.65830499A>C , CM000673.1:g.65830499A>C GRCh37
NC_000011.8:g.65587075A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000322535.11:c.1997A>C MANE Select ENSP00000318861.6:p.His666Pro
ENST00000322535.10:c.1997A>C ENSP00000318861.6:p.His666Pro
ENST00000528302.5:c.1946A>C ENSP00000432655.1:p.His649Pro
ENST00000530981.1:c.259A>C
ENST00000610523.4:c.1925A>C ENSP00000482986.1:p.His642Pro
NM_006842.2:c.1997A>C NP_006833.2:p.His666Pro
XM_005273726.2:c.1994A>C XP_005273783.1:p.His665Pro
XM_011544740.1:c.1994A>C XP_011543042.1:p.His665Pro
XM_005273726.4:c.1994A>C XP_005273783.1:p.His665Pro
XM_011544740.3:c.1994A>C XP_011543042.1:p.His665Pro
XM_017017144.2:c.1991A>C XP_016872633.1:p.His664Pro
NM_006842.3:c.1997A>C MANE Select NP_006833.2:p.His666Pro
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