Canonical Allele Identifier: CA99888687

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76169913A>G , CM000666.2:g.76169913A>G	GRCh38
NC_000004.11:g.77091066A>G , CM000666.1:g.77091066A>G	GRCh37
NC_000004.10:g.77310090A>G	NCBI36
NG_012054.1:g.48970T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.1067T>C MANE Select	NP_005497.1:p.Met356Thr
ENST00000264896.8:c.1067T>C MANE Select	ENSP00000264896.2:p.Met356Thr
NM_001204255.1:c.638T>C	NP_001191184.1:p.Met213Thr
NM_001204255.2:c.638T>C	NP_001191184.1:p.Met213Thr
NM_005506.3:c.1067T>C	NP_005497.1:p.Met356Thr
ENST00000264896.6:c.1067T>C	ENSP00000264896.2:p.Met356Thr
ENST00000452464.6:c.638T>C	ENSP00000399154.2:p.Met213Thr
ENST00000638295.1:c.593T>C	ENSP00000492288.1:p.Met198Thr
ENST00000638372.1:n.1319T>C
ENST00000638603.1:c.947T>C	ENSP00000491728.1:p.Met316Thr
ENST00000638663.1:c.1067T>C	ENSP00000491407.1:p.Met356Thr
ENST00000638680.1:n.2648T>C
ENST00000639145.1:c.1058T>C	ENSP00000492831.1:p.Met353Thr
ENST00000639300.1:c.*354T>C	ENSP00000492840.1:n.*354T>C
ENST00000639715.1:c.1022T>C
ENST00000639738.1:c.276-3612T>C	ENSP00000491792.1:n.276-3612T>C
ENST00000640341.1:c.*707T>C	ENSP00000492714.1:n.*707T>C
ENST00000640634.1:c.1188T>C
ENST00000640640.1:c.1067T>C	ENSP00000492246.1:p.Met356Thr
ENST00000640957.1:c.1067T>C	ENSP00000492004.1:p.Met356Thr
ENST00000682785.1:n.1043T>C