Canonical Allele Identifier: CA212867

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 7377
• ClinVar RCV Id: RCV000007802 ; RCV000188810 ; RCV001203979 ; RCV002326669
• dbSNP Id: rs727502773
• ExAC: 4:77100846 A / ACT
• gnomAD v2: 4-77100846-A-ACT
• gnomAD v3: 4-76179693-A-ACT
• gnomAD v4: 4-76179693-A-ACT
• MyVariant Identifiers: chr4:g.77100847_77100848dupCT (hg19) ; chr4:g.77100846_77100847insCT (hg19) ; chr4:g.76179694_76179695dupCT (hg38) ; chr4:g.76179693_76179694insCT (hg38)
• PubMed: PMID:15364701 ; PMID:18308289 ; PMID:26677510

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179696_76179697dup , CM000666.2:g.76179696_76179697dup	GRCh38
NC_000004.11:g.77100849_77100850dup , CM000666.1:g.77100849_77100850dup	GRCh37
NC_000004.10:g.77319873_77319874dup	NCBI36
NG_012054.1:g.39188_39189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.410_411dup
ENST00000264896.8:c.434_435dup MANE Select	ENSP00000264896.2:p.Trp146SerfsTer16
ENST00000502908.2:n.1935_1936dup
ENST00000638295.1:c.-41_-40dup	ENSP00000492288.1:n.-41_-40dup
ENST00000638372.1:n.686_687dup
ENST00000638603.1:c.434_435dup	ENSP00000491728.1:p.Trp146SerfsTer16
ENST00000638663.1:c.434_435dup	ENSP00000491407.1:p.Trp146SerfsTer16
ENST00000638680.1:n.2015_2016dup
ENST00000639145.1:c.425_426dup	ENSP00000492831.1:p.Trp143SerfsTer16
ENST00000639300.1:c.434_435dup	ENSP00000492840.1:p.Trp146SerfsTer16
ENST00000639324.1:n.533_534dup
ENST00000639715.1:c.389_390dup
ENST00000639738.1:c.276-13394_276-13393dup	ENSP00000491792.1:n.276-13394_276-13393dup
ENST00000640076.1:n.15_16dup
ENST00000640341.1:c.*74_*75dup	ENSP00000492714.1:n.*74_*75dup
ENST00000640634.1:c.555_556dup
ENST00000640640.1:c.434_435dup	ENSP00000492246.1:p.Trp146SerfsTer16
ENST00000640916.1:n.362_363dup
ENST00000640957.1:c.434_435dup	ENSP00000492004.1:p.Trp146SerfsTer16
ENST00000264896.6:c.434_435dup	ENSP00000264896.2:p.Trp146SerfsTer16
ENST00000452464.6:c.276-3785_276-3784dup	ENSP00000399154.2:n.276-3785_276-3784dup
NM_001204255.1:c.276-3785_276-3784dup	NP_001191184.1:n.276-3785_276-3784dup
NM_005506.3:c.434_435dup	NP_005497.1:p.Trp146SerfsTer16
NM_005506.4:c.434_435dup MANE Select	NP_005497.1:p.Trp146SerfsTer16
NM_001204255.2:c.276-3785_276-3784dup	NP_001191184.1:n.276-3785_276-3784dup