Canonical Allele Identifier: CA357326771
Gene: SCARB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76179578A>G , CM000666.2:g.76179578A>G GRCh38
NC_000004.11:g.77100731A>G , CM000666.1:g.77100731A>G GRCh37
NC_000004.10:g.77319755A>G NCBI36
NG_012054.1:g.39305T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682785.1:n.527T>C
ENST00000264896.8:c.551T>C MANE Select ENSP00000264896.2:p.Ile184Thr
ENST00000502908.2:n.2052T>C
ENST00000638295.1:c.77T>C ENSP00000492288.1:p.Ile26Thr
ENST00000638372.1:n.803T>C
ENST00000638603.1:c.551T>C ENSP00000491728.1:p.Ile184Thr
ENST00000638663.1:c.551T>C ENSP00000491407.1:p.Ile184Thr
ENST00000638680.1:n.2132T>C
ENST00000639145.1:c.542T>C ENSP00000492831.1:p.Ile181Thr
ENST00000639300.1:c.551T>C ENSP00000492840.1:p.Ile184Thr
ENST00000639324.1:n.650T>C
ENST00000639715.1:c.506T>C
ENST00000639738.1:c.276-13277T>C ENSP00000491792.1:n.276-13277T>C
ENST00000640076.1:n.132T>C
ENST00000640341.1:c.*191T>C ENSP00000492714.1:n.*191T>C
ENST00000640634.1:c.672T>C
ENST00000640640.1:c.551T>C ENSP00000492246.1:p.Ile184Thr
ENST00000640916.1:n.479T>C
ENST00000640957.1:c.551T>C ENSP00000492004.1:p.Ile184Thr
ENST00000264896.6:c.551T>C ENSP00000264896.2:p.Ile184Thr
ENST00000452464.6:c.276-3668T>C ENSP00000399154.2:n.276-3668T>C
NM_001204255.1:c.276-3668T>C NP_001191184.1:n.276-3668T>C
NM_005506.3:c.551T>C NP_005497.1:p.Ile184Thr
NM_005506.4:c.551T>C MANE Select NP_005497.1:p.Ile184Thr
NM_001204255.2:c.276-3668T>C NP_001191184.1:n.276-3668T>C