Canonical Allele Identifier: CA357315588

Gene: SCARB2

Linked Data

• MyVariant Identifiers: chr4:g.77095336G>C (hg19) ; chr4:g.76174183G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76174183G>C , CM000666.2:g.76174183G>C	GRCh38
NC_000004.11:g.77095336G>C , CM000666.1:g.77095336G>C	GRCh37
NC_000004.10:g.77314360G>C	NCBI36
NG_012054.1:g.44700C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.931C>G
ENST00000264896.8:c.955C>G MANE Select	ENSP00000264896.2:p.Leu319Val
ENST00000638295.1:c.481C>G	ENSP00000492288.1:p.Leu161Val
ENST00000638372.1:n.1207C>G
ENST00000638409.1:n.1270C>G
ENST00000638603.1:c.835C>G	ENSP00000491728.1:p.Leu279Val
ENST00000638663.1:c.955C>G	ENSP00000491407.1:p.Leu319Val
ENST00000638680.1:n.2536C>G
ENST00000638843.1:n.948C>G
ENST00000639145.1:c.946C>G	ENSP00000492831.1:p.Leu316Val
ENST00000639300.1:c.*242C>G	ENSP00000492840.1:n.*242C>G
ENST00000639715.1:c.910C>G
ENST00000639738.1:c.276-7882C>G	ENSP00000491792.1:n.276-7882C>G
ENST00000640076.1:n.536C>G
ENST00000640341.1:c.*595C>G	ENSP00000492714.1:n.*595C>G
ENST00000640634.1:c.1076C>G
ENST00000640640.1:c.955C>G	ENSP00000492246.1:p.Leu319Val
ENST00000640957.1:c.955C>G	ENSP00000492004.1:p.Leu319Val
ENST00000264896.6:c.955C>G	ENSP00000264896.2:p.Leu319Val
ENST00000452464.6:c.526C>G	ENSP00000399154.2:p.Leu176Val
NM_001204255.1:c.526C>G	NP_001191184.1:p.Leu176Val
NM_005506.3:c.955C>G	NP_005497.1:p.Leu319Val
NM_005506.4:c.955C>G MANE Select	NP_005497.1:p.Leu319Val
NM_001204255.2:c.526C>G	NP_001191184.1:p.Leu176Val