Canonical Allele Identifier: CA2970312

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 378504
• ClinVar RCV Id: RCV000457334 ; RCV000442246 ; RCV002318392 ; RCV002502482
• dbSNP Id: rs141208366
• ExAC: 4:77100715 A / G
• gnomAD v2: 4-77100715-A-G
• gnomAD v3: 4-76179562-A-G
• gnomAD v4: 4-76179562-A-G
• MyVariant Identifiers: chr4:g.77100715A>G (hg19) ; chr4:g.76179562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179562A>G , CM000666.2:g.76179562A>G	GRCh38
NC_000004.11:g.77100715A>G , CM000666.1:g.77100715A>G	GRCh37
NC_000004.10:g.77319739A>G	NCBI36
NG_012054.1:g.39321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.543T>C
ENST00000264896.8:c.567T>C MANE Select	ENSP00000264896.2:p.His189=
ENST00000502908.2:n.2068T>C
ENST00000638295.1:c.93T>C	ENSP00000492288.1:p.His31=
ENST00000638372.1:n.819T>C
ENST00000638603.1:c.567T>C	ENSP00000491728.1:p.His189=
ENST00000638663.1:c.567T>C	ENSP00000491407.1:p.His189=
ENST00000638680.1:n.2148T>C
ENST00000639145.1:c.558T>C	ENSP00000492831.1:p.His186=
ENST00000639300.1:c.567T>C	ENSP00000492840.1:p.His189=
ENST00000639324.1:n.666T>C
ENST00000639715.1:c.522T>C
ENST00000639738.1:c.276-13261T>C	ENSP00000491792.1:n.276-13261T>C
ENST00000640076.1:n.148T>C
ENST00000640341.1:c.*207T>C	ENSP00000492714.1:n.*207T>C
ENST00000640634.1:c.688T>C
ENST00000640640.1:c.567T>C	ENSP00000492246.1:p.His189=
ENST00000640916.1:n.495T>C
ENST00000640957.1:c.567T>C	ENSP00000492004.1:p.His189=
ENST00000264896.6:c.567T>C	ENSP00000264896.2:p.His189=
ENST00000452464.6:c.276-3652T>C	ENSP00000399154.2:n.276-3652T>C
NM_001204255.1:c.276-3652T>C	NP_001191184.1:n.276-3652T>C
NM_005506.3:c.567T>C	NP_005497.1:p.His189=
NM_005506.4:c.567T>C MANE Select	NP_005497.1:p.His189=
NM_001204255.2:c.276-3652T>C	NP_001191184.1:n.276-3652T>C