Canonical Allele Identifier: CA317074

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76174218T>G , CM000666.2:g.76174218T>G	GRCh38
NC_000004.11:g.77095371T>G , CM000666.1:g.77095371T>G	GRCh37
NC_000004.10:g.77314395T>G	NCBI36
NG_012054.1:g.44665A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.920A>C MANE Select	NP_005497.1:p.Asp307Ala
ENST00000264896.8:c.920A>C MANE Select	ENSP00000264896.2:p.Asp307Ala
NM_001204255.1:c.491A>C	NP_001191184.1:p.Asp164Ala
NM_001204255.2:c.491A>C	NP_001191184.1:p.Asp164Ala
NM_005506.3:c.920A>C	NP_005497.1:p.Asp307Ala
ENST00000264896.6:c.920A>C	ENSP00000264896.2:p.Asp307Ala
ENST00000452464.6:c.491A>C	ENSP00000399154.2:p.Asp164Ala
ENST00000638295.1:c.446A>C	ENSP00000492288.1:p.Asp149Ala
ENST00000638372.1:n.1172A>C
ENST00000638409.1:n.1235A>C
ENST00000638603.1:c.800A>C	ENSP00000491728.1:p.Asp267Ala
ENST00000638663.1:c.920A>C	ENSP00000491407.1:p.Asp307Ala
ENST00000638680.1:n.2501A>C
ENST00000638843.1:n.913A>C
ENST00000639145.1:c.911A>C	ENSP00000492831.1:p.Asp304Ala
ENST00000639300.1:c.*207A>C	ENSP00000492840.1:n.*207A>C
ENST00000639715.1:c.875A>C
ENST00000639738.1:c.276-7917A>C	ENSP00000491792.1:n.276-7917A>C
ENST00000640076.1:n.501A>C
ENST00000640341.1:c.*560A>C	ENSP00000492714.1:n.*560A>C
ENST00000640634.1:c.1041A>C
ENST00000640640.1:c.920A>C	ENSP00000492246.1:p.Asp307Ala
ENST00000640957.1:c.920A>C	ENSP00000492004.1:p.Asp307Ala
ENST00000682785.1:n.896A>C