Canonical Allele Identifier: CA2042627
Gene: SF3B1 HGNC NCBI
COSMIC:
COSM131556
MyVariant.info:
GRCh38 chr2:g.197402636T>G
GRCh37 chr2:g.198267360T>G
Revel Score:
ENST00000335508 (MANE Select) 0.730
gnomAD v2:
2:198267360 T / G
gnomAD v3:
2:197402636 T / G
gnomAD v4:
chr2-197402636-T-G
Joint Max Group AF 0.00000738 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar Allele:
362886
ClinVar RCV:
RCV000438980
ClinVar Variation:
376007
dbSNP:
374250186
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197402636T>G , CM000664.2:g.197402636T>G GRCh38
NC_000002.11:g.198267360T>G , CM000664.1:g.198267360T>G GRCh37
NC_000002.10:g.197975605T>G NCBI36
NG_032903.2:g.37412A>C , LRG_624:g.37412A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.1997A>C MANE Select ENSP00000335321.6:p.Lys666Thr
ENST00000470268.2:n.3881A>C
ENST00000652026.1:c.*3064A>C ENSP00000498652.1:n.*3064A>C
ENST00000652738.1:c.*2256A>C ENSP00000499119.1:n.*2256A>C
ENST00000335508.10:c.1997A>C ENSP00000335321.5:p.Lys666Thr
NM_012433.2:c.1997A>C NP_036565.2:p.Lys666Thr
NM_012433.3:c.1997A>C , LRG_624t2:c.1997A>C NP_036565.2:p.Lys666Thr
XM_011510867.1:c.1559A>C XP_011509169.1:p.Lys520Thr
XM_011510868.1:c.1559A>C XP_011509170.1:p.Lys520Thr
XR_241300.2:n.2089A>C
XR_001738680.2:n.2042A>C
NM_012433.4:c.1997A>C MANE Select NP_036565.2:p.Lys666Thr
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