Canonical Allele Identifier: CA2970158

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76166296G>A , CM000666.2:g.76166296G>A	GRCh38
NC_000004.11:g.77087449G>A , CM000666.1:g.77087449G>A	GRCh37
NC_000004.10:g.77306473G>A	NCBI36
NG_012054.1:g.52587C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.1193C>T MANE Select	NP_005497.1:p.Thr398Met
ENST00000264896.8:c.1193C>T MANE Select	ENSP00000264896.2:p.Thr398Met
NM_001204255.1:c.764C>T	NP_001191184.1:p.Thr255Met
NM_001204255.2:c.764C>T	NP_001191184.1:p.Thr255Met
NM_005506.3:c.1193C>T	NP_005497.1:p.Thr398Met
ENST00000264896.6:c.1193C>T	ENSP00000264896.2:p.Thr398Met
ENST00000452464.6:c.764C>T	ENSP00000399154.2:p.Thr255Met
ENST00000511129.1:n.569C>T
ENST00000511129.2:n.569C>T
ENST00000638295.1:c.719C>T	ENSP00000492288.1:p.Thr240Met
ENST00000638372.1:n.1445C>T
ENST00000638603.1:c.1073C>T	ENSP00000491728.1:p.Thr358Met
ENST00000638663.1:c.1193C>T	ENSP00000491407.1:p.Thr398Met
ENST00000638680.1:n.2774C>T
ENST00000639145.1:c.1184C>T	ENSP00000492831.1:p.Thr395Met
ENST00000639300.1:c.*480C>T	ENSP00000492840.1:n.*480C>T
ENST00000639715.1:c.1148C>T
ENST00000639738.1:c.281C>T	ENSP00000491792.1:p.Thr94Met
ENST00000640341.1:c.*833C>T	ENSP00000492714.1:n.*833C>T
ENST00000640634.1:c.1314C>T
ENST00000640640.1:c.1193C>T	ENSP00000492246.1:p.Thr398Met
ENST00000640880.1:c.6C>T
ENST00000640957.1:c.1193C>T	ENSP00000492004.1:p.Thr398Met
ENST00000682785.1:n.1169C>T