Canonical Allele Identifier: CA357326746

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77100719A>C (hg19) ; chr4:g.76179566A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179566A>C , CM000666.2:g.76179566A>C	GRCh38
NC_000004.11:g.77100719A>C , CM000666.1:g.77100719A>C	GRCh37
NC_000004.10:g.77319743A>C	NCBI36
NG_012054.1:g.39317T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.539T>G
ENST00000264896.8:c.563T>G MANE Select	ENSP00000264896.2:p.Ile188Ser
ENST00000502908.2:n.2064T>G
ENST00000638295.1:c.89T>G	ENSP00000492288.1:p.Ile30Ser
ENST00000638372.1:n.815T>G
ENST00000638603.1:c.563T>G	ENSP00000491728.1:p.Ile188Ser
ENST00000638663.1:c.563T>G	ENSP00000491407.1:p.Ile188Ser
ENST00000638680.1:n.2144T>G
ENST00000639145.1:c.554T>G	ENSP00000492831.1:p.Ile185Ser
ENST00000639300.1:c.563T>G	ENSP00000492840.1:p.Ile188Ser
ENST00000639324.1:n.662T>G
ENST00000639715.1:c.518T>G
ENST00000639738.1:c.276-13265T>G	ENSP00000491792.1:n.276-13265T>G
ENST00000640076.1:n.144T>G
ENST00000640341.1:c.*203T>G	ENSP00000492714.1:n.*203T>G
ENST00000640634.1:c.684T>G
ENST00000640640.1:c.563T>G	ENSP00000492246.1:p.Ile188Ser
ENST00000640916.1:n.491T>G
ENST00000640957.1:c.563T>G	ENSP00000492004.1:p.Ile188Ser
ENST00000264896.6:c.563T>G	ENSP00000264896.2:p.Ile188Ser
ENST00000452464.6:c.276-3656T>G	ENSP00000399154.2:n.276-3656T>G
NM_001204255.1:c.276-3656T>G	NP_001191184.1:n.276-3656T>G
NM_005506.3:c.563T>G	NP_005497.1:p.Ile188Ser
NM_005506.4:c.563T>G MANE Select	NP_005497.1:p.Ile188Ser
NM_001204255.2:c.276-3656T>G	NP_001191184.1:n.276-3656T>G