Canonical Allele Identifier: CA16602513

Gene: SF3B1

Linked Data

• ClinVar Variation Id: 376046
• ClinVar RCV Id: RCV000435126
• dbSNP Id: rs559063155
• MyVariant Identifiers: chr2:g.198266834T>G (hg19) ; chr2:g.197402110T>G (hg38)
• PubMed: PMID:23395771

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197402110T>G , CM000664.2:g.197402110T>G	GRCh38
NC_000002.11:g.198266834T>G , CM000664.1:g.198266834T>G	GRCh37
NC_000002.10:g.197975079T>G	NCBI36
NG_032903.2:g.37938A>C , LRG_624:g.37938A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000335508.11:c.2098A>C MANE Select	ENSP00000335321.6:p.Lys700Gln
ENST00000470268.2:n.3982A>C
ENST00000652026.1:c.*3165A>C	ENSP00000498652.1:n.*3165A>C
ENST00000652738.1:c.*2357A>C	ENSP00000499119.1:n.*2357A>C
ENST00000335508.10:c.2098A>C	ENSP00000335321.5:p.Lys700Gln
ENST00000462613.1:n.53A>C
NM_012433.2:c.2098A>C	NP_036565.2:p.Lys700Gln
NM_012433.3:c.2098A>C , LRG_624t2:c.2098A>C	NP_036565.2:p.Lys700Gln
XM_011510867.1:c.1660A>C	XP_011509169.1:p.Lys554Gln
XM_011510868.1:c.1660A>C	XP_011509170.1:p.Lys554Gln
XR_241300.2:n.2190A>C
XR_001738680.2:n.2143A>C
NM_012433.4:c.2098A>C MANE Select	NP_036565.2:p.Lys700Gln