Canonical Allele Identifier: CA2970155

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76166279T>C , CM000666.2:g.76166279T>C	GRCh38
NC_000004.11:g.77087432T>C , CM000666.1:g.77087432T>C	GRCh37
NC_000004.10:g.77306456T>C	NCBI36
NG_012054.1:g.52604A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.1210A>G MANE Select	NP_005497.1:p.Met404Val
ENST00000264896.8:c.1210A>G MANE Select	ENSP00000264896.2:p.Met404Val
NM_001204255.1:c.781A>G	NP_001191184.1:p.Met261Val
NM_001204255.2:c.781A>G	NP_001191184.1:p.Met261Val
NM_005506.3:c.1210A>G	NP_005497.1:p.Met404Val
ENST00000264896.6:c.1210A>G	ENSP00000264896.2:p.Met404Val
ENST00000452464.6:c.781A>G	ENSP00000399154.2:p.Met261Val
ENST00000511129.1:n.586A>G
ENST00000511129.2:n.586A>G
ENST00000638295.1:c.736A>G	ENSP00000492288.1:p.Met246Val
ENST00000638372.1:n.1462A>G
ENST00000638603.1:c.1090A>G	ENSP00000491728.1:p.Met364Val
ENST00000638663.1:c.1210A>G	ENSP00000491407.1:p.Met404Val
ENST00000638680.1:n.2791A>G
ENST00000639145.1:c.1201A>G	ENSP00000492831.1:p.Met401Val
ENST00000639300.1:c.*497A>G	ENSP00000492840.1:n.*497A>G
ENST00000639715.1:c.1165A>G
ENST00000639738.1:c.298A>G	ENSP00000491792.1:p.Met100Val
ENST00000640341.1:c.*850A>G	ENSP00000492714.1:n.*850A>G
ENST00000640634.1:c.1331A>G
ENST00000640640.1:c.1210A>G	ENSP00000492246.1:p.Met404Val
ENST00000640880.1:c.23A>G
ENST00000640957.1:c.1210A>G	ENSP00000492004.1:p.Met404Val
ENST00000682785.1:n.1186A>G