Canonical Allele Identifier: CA99885276

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76163341T>C , CM000666.2:g.76163341T>C	GRCh38
NC_000004.11:g.77084494T>C , CM000666.1:g.77084494T>C	GRCh37
NC_000004.10:g.77303518T>C	NCBI36
NG_012054.1:g.55542A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005506.4:c.1282A>G MANE Select	NP_005497.1:p.Met428Val
ENST00000264896.8:c.1282A>G MANE Select	ENSP00000264896.2:p.Met428Val
NM_001204255.1:c.853A>G	NP_001191184.1:p.Met285Val
NM_001204255.2:c.853A>G	NP_001191184.1:p.Met285Val
NM_005506.3:c.1282A>G	NP_005497.1:p.Met428Val
ENST00000264896.6:c.1282A>G	ENSP00000264896.2:p.Met428Val
ENST00000452464.6:c.853A>G	ENSP00000399154.2:p.Met285Val
ENST00000511129.1:n.658A>G
ENST00000511129.2:n.658A>G
ENST00000638295.1:c.808A>G	ENSP00000492288.1:p.Met270Val
ENST00000638372.1:n.4400A>G
ENST00000638603.1:c.1162A>G	ENSP00000491728.1:p.Met388Val
ENST00000638663.1:c.*64A>G	ENSP00000491407.1:n.*64A>G
ENST00000638680.1:n.2863A>G
ENST00000639145.1:c.1273A>G	ENSP00000492831.1:p.Met425Val
ENST00000639300.1:c.*569A>G	ENSP00000492840.1:n.*569A>G
ENST00000639715.1:c.1237A>G
ENST00000639738.1:c.370A>G	ENSP00000491792.1:p.Met124Val
ENST00000640341.1:c.*922A>G	ENSP00000492714.1:n.*922A>G
ENST00000640634.1:c.1403A>G
ENST00000640640.1:c.1282A>G	ENSP00000492246.1:p.Met428Val
ENST00000640880.1:c.95A>G
ENST00000640900.1:n.117A>G
ENST00000640957.1:c.1282A>G	ENSP00000492004.1:p.Met428Val
ENST00000682785.1:n.1258A>G