Canonical Allele Identifier: CA2970225

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76174223C>T , CM000666.2:g.76174223C>T	GRCh38
NC_000004.11:g.77095376C>T , CM000666.1:g.77095376C>T	GRCh37
NC_000004.10:g.77314400C>T	NCBI36
NG_012054.1:g.44660G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.915G>A MANE Select	NP_005497.1:p.Thr305=
ENST00000264896.8:c.915G>A MANE Select	ENSP00000264896.2:p.Thr305=
NM_001204255.1:c.486G>A	NP_001191184.1:p.Thr162=
NM_001204255.2:c.486G>A	NP_001191184.1:p.Thr162=
NM_005506.3:c.915G>A	NP_005497.1:p.Thr305=
ENST00000264896.6:c.915G>A	ENSP00000264896.2:p.Thr305=
ENST00000452464.6:c.486G>A	ENSP00000399154.2:p.Thr162=
ENST00000638175.1:n.552G>A
ENST00000638295.1:c.441G>A	ENSP00000492288.1:p.Thr147=
ENST00000638372.1:n.1167G>A
ENST00000638409.1:n.1230G>A
ENST00000638603.1:c.795G>A	ENSP00000491728.1:p.Thr265=
ENST00000638663.1:c.915G>A	ENSP00000491407.1:p.Thr305=
ENST00000638680.1:n.2496G>A
ENST00000638843.1:n.908G>A
ENST00000639145.1:c.906G>A	ENSP00000492831.1:p.Thr302=
ENST00000639300.1:c.*202G>A	ENSP00000492840.1:n.*202G>A
ENST00000639715.1:c.870G>A
ENST00000639738.1:c.276-7922G>A	ENSP00000491792.1:n.276-7922G>A
ENST00000640076.1:n.496G>A
ENST00000640341.1:c.*555G>A	ENSP00000492714.1:n.*555G>A
ENST00000640634.1:c.1036G>A
ENST00000640640.1:c.915G>A	ENSP00000492246.1:p.Thr305=
ENST00000640957.1:c.915G>A	ENSP00000492004.1:p.Thr305=
ENST00000682785.1:n.891G>A