Canonical Allele Identifier: CA317066

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179606C>T , CM000666.2:g.76179606C>T	GRCh38
NC_000004.11:g.77100759C>T , CM000666.1:g.77100759C>T	GRCh37
NC_000004.10:g.77319783C>T	NCBI36
NG_012054.1:g.39277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.499G>A
ENST00000264896.8:c.523G>A MANE Select	ENSP00000264896.2:p.Glu175Lys
ENST00000502908.2:n.2024G>A
ENST00000638295.1:c.49G>A	ENSP00000492288.1:p.Glu17Lys
ENST00000638372.1:n.775G>A
ENST00000638603.1:c.523G>A	ENSP00000491728.1:p.Glu175Lys
ENST00000638663.1:c.523G>A	ENSP00000491407.1:p.Glu175Lys
ENST00000638680.1:n.2104G>A
ENST00000639145.1:c.514G>A	ENSP00000492831.1:p.Glu172Lys
ENST00000639300.1:c.523G>A	ENSP00000492840.1:p.Glu175Lys
ENST00000639324.1:n.622G>A
ENST00000639715.1:c.478G>A
ENST00000639738.1:c.276-13305G>A	ENSP00000491792.1:n.276-13305G>A
ENST00000640076.1:n.104G>A
ENST00000640341.1:c.*163G>A	ENSP00000492714.1:n.*163G>A
ENST00000640634.1:c.644G>A
ENST00000640640.1:c.523G>A	ENSP00000492246.1:p.Glu175Lys
ENST00000640916.1:n.451G>A
ENST00000640957.1:c.523G>A	ENSP00000492004.1:p.Glu175Lys
ENST00000264896.6:c.523G>A	ENSP00000264896.2:p.Glu175Lys
ENST00000452464.6:c.276-3696G>A	ENSP00000399154.2:n.276-3696G>A
NM_001204255.1:c.276-3696G>A	NP_001191184.1:n.276-3696G>A
NM_005506.3:c.523G>A	NP_005497.1:p.Glu175Lys
NM_005506.4:c.523G>A MANE Select	NP_005497.1:p.Glu175Lys
NM_001204255.2:c.276-3696G>A	NP_001191184.1:n.276-3696G>A