Canonical Allele Identifier: CA2573054974
Gene: SCARF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332921
ClinVar RCV Id: RCV001807555
dbSNP Id: rs2146119293
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425729dup , CM000684.2:g.20425729dup GRCh38
NC_000022.10:g.20780018dup , CM000684.1:g.20780018dup GRCh37
NC_000022.9:g.19110018dup NCBI36
NG_031868.2:g.17132dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000622235.5:c.2248dup MANE Select ENSP00000477564.2:p.Leu750ProfsTer24
ENST00000615031.4:c.2261dup ENSP00000479389.1:p.Leu755SerfsTer23
ENST00000622235.4:c.2248dup ENSP00000477564.1:p.Leu750ProfsTer24
ENST00000623402.1:c.2263dup ENSP00000485276.1:p.Leu755ProfsTer24
NM_153334.6:c.2263dup NP_699165.3:p.Leu755ProfsTer24
NM_182895.4:c.2248dup NP_878315.2:p.Leu750ProfsTer24
NM_153334.7:c.2263dup NP_699165.3:p.Leu755ProfsTer24
NM_182895.5:c.2248dup MANE Select NP_878315.2:p.Leu750ProfsTer24
Search 100 bp 5'
Search 100 bp 3'