Canonical Allele Identifier: CA357315979

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77095437T>G (hg19) ; chr4:g.76174284T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76174284T>G , CM000666.2:g.76174284T>G	GRCh38
NC_000004.11:g.77095437T>G , CM000666.1:g.77095437T>G	GRCh37
NC_000004.10:g.77314461T>G	NCBI36
NG_012054.1:g.44599A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.830A>C
ENST00000264896.8:c.854A>C MANE Select	ENSP00000264896.2:p.Glu285Ala
ENST00000638175.1:n.491A>C
ENST00000638295.1:c.380A>C	ENSP00000492288.1:p.Glu127Ala
ENST00000638372.1:n.1106A>C
ENST00000638409.1:n.1169A>C
ENST00000638603.1:c.734A>C	ENSP00000491728.1:p.Glu245Ala
ENST00000638663.1:c.854A>C	ENSP00000491407.1:p.Glu285Ala
ENST00000638680.1:n.2435A>C
ENST00000638843.1:n.847A>C
ENST00000639145.1:c.845A>C	ENSP00000492831.1:p.Glu282Ala
ENST00000639300.1:c.*141A>C	ENSP00000492840.1:n.*141A>C
ENST00000639715.1:c.809A>C
ENST00000639738.1:c.276-7983A>C	ENSP00000491792.1:n.276-7983A>C
ENST00000640076.1:n.435A>C
ENST00000640341.1:c.*494A>C	ENSP00000492714.1:n.*494A>C
ENST00000640634.1:c.975A>C
ENST00000640640.1:c.854A>C	ENSP00000492246.1:p.Glu285Ala
ENST00000640957.1:c.854A>C	ENSP00000492004.1:p.Glu285Ala
ENST00000264896.6:c.854A>C	ENSP00000264896.2:p.Glu285Ala
ENST00000452464.6:c.425A>C	ENSP00000399154.2:p.Glu142Ala
NM_001204255.1:c.425A>C	NP_001191184.1:p.Glu142Ala
NM_005506.3:c.854A>C	NP_005497.1:p.Glu285Ala
NM_005506.4:c.854A>C MANE Select	NP_005497.1:p.Glu285Ala
NM_001204255.2:c.425A>C	NP_001191184.1:p.Glu142Ala