Canonical Allele Identifier: CA317052

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 206701
• ClinVar RCV Id: RCV000188787 ; RCV000768072 ; RCV000725214 ; RCV001085976 ; RCV002311280 ; RCV003907663
• dbSNP Id: rs147159813
• ExAC: 4:77100837 C / T
• gnomAD v2: 4-77100837-C-T
• gnomAD v3: 4-76179684-C-T
• gnomAD v4: 4-76179684-C-T
• MyVariant Identifiers: chr4:g.77100837C>T (hg19) ; chr4:g.76179684C>T (hg38)
• PubMed: PMID:18308289 ; PMID:26836416

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179684C>T , CM000666.2:g.76179684C>T	GRCh38
NC_000004.11:g.77100837C>T , CM000666.1:g.77100837C>T	GRCh37
NC_000004.10:g.77319861C>T	NCBI36
NG_012054.1:g.39199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.421G>A
ENST00000264896.8:c.445G>A MANE Select	ENSP00000264896.2:p.Val149Met
ENST00000502908.2:n.1946G>A
ENST00000638295.1:c.-30G>A	ENSP00000492288.1:n.-30G>A
ENST00000638372.1:n.697G>A
ENST00000638603.1:c.445G>A	ENSP00000491728.1:p.Val149Met
ENST00000638663.1:c.445G>A	ENSP00000491407.1:p.Val149Met
ENST00000638680.1:n.2026G>A
ENST00000639145.1:c.436G>A	ENSP00000492831.1:p.Val146Met
ENST00000639300.1:c.445G>A	ENSP00000492840.1:p.Val149Met
ENST00000639324.1:n.544G>A
ENST00000639715.1:c.400G>A
ENST00000639738.1:c.276-13383G>A	ENSP00000491792.1:n.276-13383G>A
ENST00000640076.1:n.26G>A
ENST00000640341.1:c.*85G>A	ENSP00000492714.1:n.*85G>A
ENST00000640634.1:c.566G>A
ENST00000640640.1:c.445G>A	ENSP00000492246.1:p.Val149Met
ENST00000640916.1:n.373G>A
ENST00000640957.1:c.445G>A	ENSP00000492004.1:p.Val149Met
ENST00000264896.6:c.445G>A	ENSP00000264896.2:p.Val149Met
ENST00000452464.6:c.276-3774G>A	ENSP00000399154.2:n.276-3774G>A
NM_001204255.1:c.276-3774G>A	NP_001191184.1:n.276-3774G>A
NM_005506.3:c.445G>A	NP_005497.1:p.Val149Met
NM_005506.4:c.445G>A MANE Select	NP_005497.1:p.Val149Met
NM_001204255.2:c.276-3774G>A	NP_001191184.1:n.276-3774G>A