Canonical Allele Identifier: CA357315977

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77095436C>A (hg19) ; chr4:g.76174283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76174283C>A , CM000666.2:g.76174283C>A	GRCh38
NC_000004.11:g.77095436C>A , CM000666.1:g.77095436C>A	GRCh37
NC_000004.10:g.77314460C>A	NCBI36
NG_012054.1:g.44600G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.831G>T
ENST00000264896.8:c.855G>T MANE Select	ENSP00000264896.2:p.Glu285Asp
ENST00000638175.1:n.492G>T
ENST00000638295.1:c.381G>T	ENSP00000492288.1:p.Glu127Asp
ENST00000638372.1:n.1107G>T
ENST00000638409.1:n.1170G>T
ENST00000638603.1:c.735G>T	ENSP00000491728.1:p.Glu245Asp
ENST00000638663.1:c.855G>T	ENSP00000491407.1:p.Glu285Asp
ENST00000638680.1:n.2436G>T
ENST00000638843.1:n.848G>T
ENST00000639145.1:c.846G>T	ENSP00000492831.1:p.Glu282Asp
ENST00000639300.1:c.*142G>T	ENSP00000492840.1:n.*142G>T
ENST00000639715.1:c.810G>T
ENST00000639738.1:c.276-7982G>T	ENSP00000491792.1:n.276-7982G>T
ENST00000640076.1:n.436G>T
ENST00000640341.1:c.*495G>T	ENSP00000492714.1:n.*495G>T
ENST00000640634.1:c.976G>T
ENST00000640640.1:c.855G>T	ENSP00000492246.1:p.Glu285Asp
ENST00000640957.1:c.855G>T	ENSP00000492004.1:p.Glu285Asp
ENST00000264896.6:c.855G>T	ENSP00000264896.2:p.Glu285Asp
ENST00000452464.6:c.426G>T	ENSP00000399154.2:p.Glu142Asp
NM_001204255.1:c.426G>T	NP_001191184.1:p.Glu142Asp
NM_005506.3:c.855G>T	NP_005497.1:p.Glu285Asp
NM_005506.4:c.855G>T MANE Select	NP_005497.1:p.Glu285Asp
NM_001204255.2:c.426G>T	NP_001191184.1:p.Glu142Asp