Canonical Allele Identifier: CA357327036

Gene: SCARB2

Linked Data

• COSMIC: COSM481520
• MyVariant Identifiers: chr4:g.77100845C>A (hg19) ; chr4:g.76179692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179692C>A , CM000666.2:g.76179692C>A	GRCh38
NC_000004.11:g.77100845C>A , CM000666.1:g.77100845C>A	GRCh37
NC_000004.10:g.77319869C>A	NCBI36
NG_012054.1:g.39191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.413G>T
ENST00000264896.8:c.437G>T MANE Select	ENSP00000264896.2:p.Trp146Leu
ENST00000502908.2:n.1938G>T
ENST00000638295.1:c.-38G>T	ENSP00000492288.1:n.-38G>T
ENST00000638372.1:n.689G>T
ENST00000638603.1:c.437G>T	ENSP00000491728.1:p.Trp146Leu
ENST00000638663.1:c.437G>T	ENSP00000491407.1:p.Trp146Leu
ENST00000638680.1:n.2018G>T
ENST00000639145.1:c.428G>T	ENSP00000492831.1:p.Trp143Leu
ENST00000639300.1:c.437G>T	ENSP00000492840.1:p.Trp146Leu
ENST00000639324.1:n.536G>T
ENST00000639715.1:c.392G>T
ENST00000639738.1:c.276-13391G>T	ENSP00000491792.1:n.276-13391G>T
ENST00000640076.1:n.18G>T
ENST00000640341.1:c.*77G>T	ENSP00000492714.1:n.*77G>T
ENST00000640634.1:c.558G>T
ENST00000640640.1:c.437G>T	ENSP00000492246.1:p.Trp146Leu
ENST00000640916.1:n.365G>T
ENST00000640957.1:c.437G>T	ENSP00000492004.1:p.Trp146Leu
ENST00000264896.6:c.437G>T	ENSP00000264896.2:p.Trp146Leu
ENST00000452464.6:c.276-3782G>T	ENSP00000399154.2:n.276-3782G>T
NM_001204255.1:c.276-3782G>T	NP_001191184.1:n.276-3782G>T
NM_005506.3:c.437G>T	NP_005497.1:p.Trp146Leu
NM_005506.4:c.437G>T MANE Select	NP_005497.1:p.Trp146Leu
NM_001204255.2:c.276-3782G>T	NP_001191184.1:n.276-3782G>T