Canonical Allele Identifier: CA2970176

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76168474C>T , CM000666.2:g.76168474C>T	GRCh38
NC_000004.11:g.77089627C>T , CM000666.1:g.77089627C>T	GRCh37
NC_000004.10:g.77308651C>T	NCBI36
NG_012054.1:g.50409G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.1116G>A MANE Select	NP_005497.1:p.Leu372=
ENST00000264896.8:c.1116G>A MANE Select	ENSP00000264896.2:p.Leu372=
NM_001204255.1:c.687G>A	NP_001191184.1:p.Leu229=
NM_001204255.2:c.687G>A	NP_001191184.1:p.Leu229=
NM_005506.3:c.1116G>A	NP_005497.1:p.Leu372=
ENST00000264896.6:c.1116G>A	ENSP00000264896.2:p.Leu372=
ENST00000452464.6:c.687G>A	ENSP00000399154.2:p.Leu229=
ENST00000638295.1:c.642G>A	ENSP00000492288.1:p.Leu214=
ENST00000638372.1:n.1368G>A
ENST00000638603.1:c.996G>A	ENSP00000491728.1:p.Leu332=
ENST00000638663.1:c.1116G>A	ENSP00000491407.1:p.Leu372=
ENST00000638680.1:n.2697G>A
ENST00000639145.1:c.1107G>A	ENSP00000492831.1:p.Leu369=
ENST00000639300.1:c.*403G>A	ENSP00000492840.1:n.*403G>A
ENST00000639715.1:c.1071G>A
ENST00000639738.1:c.276-2173G>A	ENSP00000491792.1:n.276-2173G>A
ENST00000640341.1:c.*756G>A	ENSP00000492714.1:n.*756G>A
ENST00000640634.1:c.1237G>A
ENST00000640640.1:c.1116G>A	ENSP00000492246.1:p.Leu372=
ENST00000640957.1:c.1116G>A	ENSP00000492004.1:p.Leu372=
ENST00000682785.1:n.1092G>A