Canonical Allele Identifier: CA99885229

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76163258C>T , CM000666.2:g.76163258C>T	GRCh38
NC_000004.11:g.77084411C>T , CM000666.1:g.77084411C>T	GRCh37
NC_000004.10:g.77303435C>T	NCBI36
NG_012054.1:g.55625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.1341G>A
ENST00000264896.8:c.1365G>A MANE Select	ENSP00000264896.2:p.Trp455Ter
ENST00000511129.2:n.741G>A
ENST00000638295.1:c.891G>A	ENSP00000492288.1:p.Trp297Ter
ENST00000638372.1:n.4483G>A
ENST00000638603.1:c.1245G>A	ENSP00000491728.1:p.Trp415Ter
ENST00000638663.1:c.*147G>A	ENSP00000491407.1:n.*147G>A
ENST00000638680.1:n.2946G>A
ENST00000639145.1:c.1356G>A	ENSP00000492831.1:p.Trp452Ter
ENST00000639300.1:c.*652G>A	ENSP00000492840.1:n.*652G>A
ENST00000639715.1:c.1320G>A
ENST00000639738.1:c.453G>A	ENSP00000491792.1:p.Trp151Ter
ENST00000640341.1:c.*1005G>A	ENSP00000492714.1:n.*1005G>A
ENST00000640634.1:c.1486G>A
ENST00000640640.1:c.1336+29G>A	ENSP00000492246.1:n.1336+29G>A
ENST00000640880.1:c.178G>A
ENST00000640900.1:n.200G>A
ENST00000640957.1:c.1365G>A	ENSP00000492004.1:p.Trp455Ter
ENST00000264896.6:c.1365G>A	ENSP00000264896.2:p.Trp455Ter
ENST00000452464.6:c.936G>A	ENSP00000399154.2:p.Trp312Ter
ENST00000511129.1:n.741G>A
NM_001204255.1:c.936G>A	NP_001191184.1:p.Trp312Ter
NM_005506.3:c.1365G>A	NP_005497.1:p.Trp455Ter
NM_005506.4:c.1365G>A MANE Select	NP_005497.1:p.Trp455Ter
NM_001204255.2:c.936G>A	NP_001191184.1:p.Trp312Ter