Canonical Allele Identifier: CA2042577
Gene: SF3B1 HGNC NCBI
COSMIC:
COSM145923
MyVariant.info:
GRCh38 chr2:g.197401887C>T
GRCh37 chr2:g.198266611C>T
Revel Score:
ENST00000335508 (MANE Select) 0.535
gnomAD v2:
2:198266611 C / T
gnomAD v3:
2:197401887 C / T
gnomAD v4:
chr2-197401887-C-T
Joint Max Group AF 0.00000248 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000133 (NFE)
ClinVar Allele:
363409
ClinVar RCV:
RCV000417601
RCV000438761
ClinVar Variation:
376530
dbSNP:
755415626
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197401887C>T , CM000664.2:g.197401887C>T GRCh38
NC_000002.11:g.198266611C>T , CM000664.1:g.198266611C>T GRCh37
NC_000002.10:g.197974856C>T NCBI36
NG_032903.2:g.38161G>A , LRG_624:g.38161G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.2225G>A MANE Select ENSP00000335321.6:p.Gly742Asp
ENST00000470268.2:n.4109G>A
ENST00000652026.1:c.*3292G>A ENSP00000498652.1:n.*3292G>A
ENST00000652738.1:c.*2484G>A ENSP00000499119.1:n.*2484G>A
ENST00000335508.10:c.2225G>A ENSP00000335321.5:p.Gly742Asp
NM_012433.2:c.2225G>A NP_036565.2:p.Gly742Asp
NM_012433.3:c.2225G>A , LRG_624t2:c.2225G>A NP_036565.2:p.Gly742Asp
XM_011510867.1:c.1787G>A XP_011509169.1:p.Gly596Asp
XM_011510868.1:c.1787G>A XP_011509170.1:p.Gly596Asp
XR_241300.2:n.2317G>A
XR_001738680.2:n.2270G>A
NM_012433.4:c.2225G>A MANE Select NP_036565.2:p.Gly742Asp
Search 100 bp 5'
Search 100 bp 3'