Canonical Allele Identifier: CA10602678

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 268137
• ClinVar RCV Id: RCV000258866
• dbSNP Id: rs886041074
• MyVariant Identifiers: chr4:g.77100860T>G (hg19) ; chr4:g.76179707T>G (hg38)
• PubMed: PMID:19847901 ; PMID:26677510

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179707T>G , CM000666.2:g.76179707T>G	GRCh38
NC_000004.11:g.77100860T>G , CM000666.1:g.77100860T>G	GRCh37
NC_000004.10:g.77319884T>G	NCBI36
NG_012054.1:g.39176A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.400-2A>C
ENST00000264896.8:c.424-2A>C MANE Select	ENSP00000264896.2:n.424-2A>C
ENST00000502908.2:n.1923A>C
ENST00000638295.1:c.-51-2A>C	ENSP00000492288.1:n.-51-2A>C
ENST00000638372.1:n.676-2A>C
ENST00000638603.1:c.424-2A>C	ENSP00000491728.1:n.424-2A>C
ENST00000638663.1:c.424-2A>C	ENSP00000491407.1:n.424-2A>C
ENST00000638680.1:n.2003A>C
ENST00000639145.1:c.415-2A>C	ENSP00000492831.1:n.415-2A>C
ENST00000639300.1:c.424-2A>C	ENSP00000492840.1:n.424-2A>C
ENST00000639324.1:n.523-2A>C
ENST00000639715.1:c.389-12A>C
ENST00000639738.1:c.276-13406A>C	ENSP00000491792.1:n.276-13406A>C
ENST00000640076.1:n.3A>C
ENST00000640341.1:c.*62A>C	ENSP00000492714.1:n.*62A>C
ENST00000640634.1:c.545-2A>C
ENST00000640640.1:c.424-2A>C	ENSP00000492246.1:n.424-2A>C
ENST00000640916.1:n.352-2A>C
ENST00000640957.1:c.424-2A>C	ENSP00000492004.1:n.424-2A>C
ENST00000264896.6:c.424-2A>C	ENSP00000264896.2:n.424-2A>C
ENST00000452464.6:c.276-3797A>C	ENSP00000399154.2:n.276-3797A>C
NM_001204255.1:c.276-3797A>C	NP_001191184.1:n.276-3797A>C
NM_005506.3:c.424-2A>C	NP_005497.1:n.424-2A>C
NM_005506.4:c.424-2A>C MANE Select	NP_005497.1:n.424-2A>C
NM_001204255.2:c.276-3797A>C	NP_001191184.1:n.276-3797A>C