Canonical Allele Identifier: CA317090
Gene: SCARB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 206723
ClinVar RCV Id: RCV000188811
dbSNP Id: rs796052949
gnomAD v4: 4-76163285-AC-A
MyVariant Identifiers: chr4:g.77084439del (hg19) chr4:g.76163286del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76163288del , CM000666.2:g.76163288del GRCh38
NC_000004.11:g.77084441del , CM000666.1:g.77084441del GRCh37
NC_000004.10:g.77303465del NCBI36
NG_012054.1:g.55597del

Transcript Alleles

HGVS Amino-acid change
ENST00000682785.1:n.1313del
ENST00000264896.8:c.1337del MANE Select ENSP00000264896.2:p.Gly446ValfsTer?
ENST00000511129.2:n.713del
ENST00000638295.1:c.863del ENSP00000492288.1:p.Gly288ValfsTer?
ENST00000638372.1:n.4455del
ENST00000638603.1:c.1217del ENSP00000491728.1:p.Gly406ValfsTer?
ENST00000638663.1:c.*119del ENSP00000491407.1:n.*119del
ENST00000638680.1:n.2918del
ENST00000639145.1:c.1328del ENSP00000492831.1:p.Gly443ValfsTer?
ENST00000639300.1:c.*624del ENSP00000492840.1:n.*624del
ENST00000639715.1:c.1292del
ENST00000639738.1:c.425del ENSP00000491792.1:p.Gly142ValfsTer?
ENST00000640341.1:c.*977del ENSP00000492714.1:n.*977del
ENST00000640634.1:c.1458del
ENST00000640640.1:c.1336+1del
ENST00000640880.1:c.150del
ENST00000640900.1:n.172del
ENST00000640957.1:c.1337del ENSP00000492004.1:p.Gly446ValfsTer22
ENST00000264896.6:c.1337del ENSP00000264896.2:p.Gly446ValfsTer?
ENST00000452464.6:c.908del ENSP00000399154.2:p.Gly303ValfsTer?
ENST00000511129.1:n.713del
NM_001204255.1:c.908del NP_001191184.1:p.Gly303ValfsTer?
NM_005506.3:c.1337del NP_005497.1:p.Gly446ValfsTer?
NM_005506.4:c.1337del MANE Select NP_005497.1:p.Gly446ValfsTer?
NM_001204255.2:c.908del NP_001191184.1:p.Gly303ValfsTer?
Search 100 bp 5'
Search 100 bp 3'