Canonical Allele Identifier: CA658657387

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 453288
• ClinVar RCV Id: RCV000531644
• dbSNP Id: rs1553948516
• gnomAD v3: 4-76181009-T-TG
• gnomAD v4: 4-76181009-T-TG
• MyVariant Identifiers: chr4:g.77102163dup (hg19) ; chr4:g.76181010dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76181011dup , CM000666.2:g.76181011dup	GRCh38
NC_000004.11:g.77102164dup , CM000666.1:g.77102164dup	GRCh37
NC_000004.10:g.77321188dup	NCBI36
NG_012054.1:g.37873dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.343dup
ENST00000264896.8:c.367dup MANE Select	ENSP00000264896.2:p.Gln123ProfsTer7
ENST00000502908.2:n.620dup
ENST00000638295.1:c.-108dup	ENSP00000492288.1:n.-108dup
ENST00000638372.1:n.619dup
ENST00000638603.1:c.367dup	ENSP00000491728.1:p.Gln123ProfsTer7
ENST00000638663.1:c.367dup	ENSP00000491407.1:p.Gln123ProfsTer7
ENST00000638680.1:n.700dup
ENST00000639145.1:c.358dup	ENSP00000492831.1:p.Gln120ProfsTer7
ENST00000639300.1:c.367dup	ENSP00000492840.1:p.Gln123ProfsTer7
ENST00000639324.1:n.466dup
ENST00000639715.1:c.332dup
ENST00000639738.1:c.275+14697dup	ENSP00000491792.1:n.275+14697dup
ENST00000640341.1:c.367dup	ENSP00000492714.1:p.Gln123ProfsTer7
ENST00000640634.1:c.344dup
ENST00000640640.1:c.367dup	ENSP00000492246.1:p.Gln123ProfsTer7
ENST00000640916.1:n.295dup
ENST00000640957.1:c.367dup	ENSP00000492004.1:p.Gln123ProfsTer7
ENST00000264896.6:c.367dup	ENSP00000264896.2:p.Gln123ProfsTer7
ENST00000452464.6:c.276-5100dup	ENSP00000399154.2:n.276-5100dup
ENST00000502908.1:n.231dup
NM_001204255.1:c.276-5100dup	NP_001191184.1:n.276-5100dup
NM_005506.3:c.367dup	NP_005497.1:p.Gln123ProfsTer7
NM_005506.4:c.367dup MANE Select	NP_005497.1:p.Gln123ProfsTer7
NM_001204255.2:c.276-5100dup	NP_001191184.1:n.276-5100dup