Canonical Allele Identifier: CA357326717

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100706C>A (hg19) ; chr4:g.76179553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179553C>A , CM000666.2:g.76179553C>A	GRCh38
NC_000004.11:g.77100706C>A , CM000666.1:g.77100706C>A	GRCh37
NC_000004.10:g.77319730C>A	NCBI36
NG_012054.1:g.39330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.552G>T
ENST00000264896.8:c.576G>T MANE Select	ENSP00000264896.2:p.Arg192Ser
ENST00000502908.2:n.2077G>T
ENST00000638295.1:c.102G>T	ENSP00000492288.1:p.Arg34Ser
ENST00000638372.1:n.828G>T
ENST00000638603.1:c.576G>T	ENSP00000491728.1:p.Arg192Ser
ENST00000638663.1:c.576G>T	ENSP00000491407.1:p.Arg192Ser
ENST00000638680.1:n.2157G>T
ENST00000639145.1:c.567G>T	ENSP00000492831.1:p.Arg189Ser
ENST00000639300.1:c.576G>T	ENSP00000492840.1:p.Arg192Ser
ENST00000639324.1:n.675G>T
ENST00000639715.1:c.531G>T
ENST00000639738.1:c.276-13252G>T	ENSP00000491792.1:n.276-13252G>T
ENST00000640076.1:n.157G>T
ENST00000640341.1:c.*216G>T	ENSP00000492714.1:n.*216G>T
ENST00000640634.1:c.697G>T
ENST00000640640.1:c.576G>T	ENSP00000492246.1:p.Arg192Ser
ENST00000640916.1:n.504G>T
ENST00000640957.1:c.576G>T	ENSP00000492004.1:p.Arg192Ser
ENST00000264896.6:c.576G>T	ENSP00000264896.2:p.Arg192Ser
ENST00000452464.6:c.276-3643G>T	ENSP00000399154.2:n.276-3643G>T
NM_001204255.1:c.276-3643G>T	NP_001191184.1:n.276-3643G>T
NM_005506.3:c.576G>T	NP_005497.1:p.Arg192Ser
NM_005506.4:c.576G>T MANE Select	NP_005497.1:p.Arg192Ser
NM_001204255.2:c.276-3643G>T	NP_001191184.1:n.276-3643G>T