Canonical Allele Identifier: CA2573054975
Gene: SCARF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332920
ClinVar RCV Id: RCV001807554
dbSNP Id: rs2146119376

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20425741dup , CM000684.2:g.20425741dup GRCh38
NC_000022.10:g.20780029dup , CM000684.1:g.20780029dup GRCh37
NC_000022.9:g.19110029dup NCBI36
NG_031868.2:g.17120dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000622235.5:c.2236dup MANE Select ENSP00000477564.2:p.Arg746ProfsTer28
ENST00000615031.4:c.2250dup ENSP00000479389.1:p.Ala751ArgfsTer27
ENST00000622235.4:c.2236dup ENSP00000477564.1:p.Arg746ProfsTer28
ENST00000623402.1:c.2251dup ENSP00000485276.1:p.Arg751ProfsTer28
NM_153334.6:c.2251dup NP_699165.3:p.Arg751ProfsTer28
NM_182895.4:c.2236dup NP_878315.2:p.Arg746ProfsTer28
NM_153334.7:c.2251dup NP_699165.3:p.Arg751ProfsTer28
NM_182895.5:c.2236dup MANE Select NP_878315.2:p.Arg746ProfsTer28