Canonical Allele Identifier: CA439953923

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 1083394
• ClinVar RCV Id: RCV001400030
• dbSNP Id: rs2109947357
• gnomAD v4: 4-76179670-C-T
• MyVariant Identifiers: chr4:g.77100823C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179670C>T , CM000666.2:g.76179670C>T	GRCh38
NC_000004.11:g.77100823C>T , CM000666.1:g.77100823C>T	GRCh37
NC_000004.10:g.77319847C>T	NCBI36
NG_012054.1:g.39213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.435G>A
ENST00000264896.8:c.459G>A MANE Select	ENSP00000264896.2:p.Arg153=
ENST00000502908.2:n.1960G>A
ENST00000638295.1:c.-16G>A	ENSP00000492288.1:n.-16G>A
ENST00000638372.1:n.711G>A
ENST00000638603.1:c.459G>A	ENSP00000491728.1:p.Arg153=
ENST00000638663.1:c.459G>A	ENSP00000491407.1:p.Arg153=
ENST00000638680.1:n.2040G>A
ENST00000639145.1:c.450G>A	ENSP00000492831.1:p.Arg150=
ENST00000639300.1:c.459G>A	ENSP00000492840.1:p.Arg153=
ENST00000639324.1:n.558G>A
ENST00000639715.1:c.414G>A
ENST00000639738.1:c.276-13369G>A	ENSP00000491792.1:n.276-13369G>A
ENST00000640076.1:n.40G>A
ENST00000640341.1:c.*99G>A	ENSP00000492714.1:n.*99G>A
ENST00000640634.1:c.580G>A
ENST00000640640.1:c.459G>A	ENSP00000492246.1:p.Arg153=
ENST00000640916.1:n.387G>A
ENST00000640957.1:c.459G>A	ENSP00000492004.1:p.Arg153=
ENST00000264896.6:c.459G>A	ENSP00000264896.2:p.Arg153=
ENST00000452464.6:c.276-3760G>A	ENSP00000399154.2:n.276-3760G>A
NM_001204255.1:c.276-3760G>A	NP_001191184.1:n.276-3760G>A
NM_005506.3:c.459G>A	NP_005497.1:p.Arg153=
NM_005506.4:c.459G>A MANE Select	NP_005497.1:p.Arg153=
NM_001204255.2:c.276-3760G>A	NP_001191184.1:n.276-3760G>A