Canonical Allele Identifier: CA118742
Gene: SCARB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7379
ClinVar RCV Id: RCV000007804
dbSNP Id: rs121909119
MyVariant Identifiers: chr4:g.77100749C>T (hg19) chr4:g.76179596C>T (hg38)
PubMed: PMID:18424452 PMID:26677510
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76179596C>T , CM000666.2:g.76179596C>T GRCh38
NC_000004.11:g.77100749C>T , CM000666.1:g.77100749C>T GRCh37
NC_000004.10:g.77319773C>T NCBI36
NG_012054.1:g.39287G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682785.1:n.509G>A
ENST00000264896.8:c.533G>A MANE Select ENSP00000264896.2:p.Trp178Ter
ENST00000502908.2:n.2034G>A
ENST00000638295.1:c.59G>A ENSP00000492288.1:p.Trp20Ter
ENST00000638372.1:n.785G>A
ENST00000638603.1:c.533G>A ENSP00000491728.1:p.Trp178Ter
ENST00000638663.1:c.533G>A ENSP00000491407.1:p.Trp178Ter
ENST00000638680.1:n.2114G>A
ENST00000639145.1:c.524G>A ENSP00000492831.1:p.Trp175Ter
ENST00000639300.1:c.533G>A ENSP00000492840.1:p.Trp178Ter
ENST00000639324.1:n.632G>A
ENST00000639715.1:c.488G>A
ENST00000639738.1:c.276-13295G>A ENSP00000491792.1:n.276-13295G>A
ENST00000640076.1:n.114G>A
ENST00000640341.1:c.*173G>A ENSP00000492714.1:n.*173G>A
ENST00000640634.1:c.654G>A
ENST00000640640.1:c.533G>A ENSP00000492246.1:p.Trp178Ter
ENST00000640916.1:n.461G>A
ENST00000640957.1:c.533G>A ENSP00000492004.1:p.Trp178Ter
ENST00000264896.6:c.533G>A ENSP00000264896.2:p.Trp178Ter
ENST00000452464.6:c.276-3686G>A ENSP00000399154.2:n.276-3686G>A
NM_001204255.1:c.276-3686G>A NP_001191184.1:n.276-3686G>A
NM_005506.3:c.533G>A NP_005497.1:p.Trp178Ter
NM_005506.4:c.533G>A MANE Select NP_005497.1:p.Trp178Ter
NM_001204255.2:c.276-3686G>A NP_001191184.1:n.276-3686G>A
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