Canonical Allele Identifier: CA317091

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 206724
• ClinVar RCV Id: RCV000734839 ; RCV000188812 ; RCV000462122 ; RCV002485281 ; RCV002433852
• dbSNP Id: rs145870223
• ExAC: 4:77102253 C / T
• gnomAD v2: 4-77102253-C-T
• gnomAD v3: 4-76181100-C-T
• gnomAD v4: 4-76181100-C-T
• MyVariant Identifiers: chr4:g.77102253C>T (hg19) ; chr4:g.76181100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76181100C>T , CM000666.2:g.76181100C>T	GRCh38
NC_000004.11:g.77102253C>T , CM000666.1:g.77102253C>T	GRCh37
NC_000004.10:g.77321277C>T	NCBI36
NG_012054.1:g.37783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.253G>A
ENST00000264896.8:c.277G>A MANE Select	ENSP00000264896.2:p.Glu93Lys
ENST00000502908.2:n.530G>A
ENST00000509994.2:c.*80G>A	ENSP00000420988.1:n.*80G>A
ENST00000638295.1:c.-198G>A	ENSP00000492288.1:n.-198G>A
ENST00000638372.1:n.529G>A
ENST00000638603.1:c.277G>A	ENSP00000491728.1:p.Glu93Lys
ENST00000638663.1:c.277G>A	ENSP00000491407.1:p.Glu93Lys
ENST00000638680.1:n.610G>A
ENST00000639145.1:c.276-8G>A	ENSP00000492831.1:n.276-8G>A
ENST00000639300.1:c.277G>A	ENSP00000492840.1:p.Glu93Lys
ENST00000639324.1:n.376G>A
ENST00000639715.1:c.242G>A
ENST00000639738.1:c.275+14607G>A	ENSP00000491792.1:n.275+14607G>A
ENST00000640341.1:c.277G>A	ENSP00000492714.1:p.Glu93Lys
ENST00000640634.1:c.254G>A
ENST00000640640.1:c.277G>A	ENSP00000492246.1:p.Glu93Lys
ENST00000640916.1:n.205G>A
ENST00000640957.1:c.277G>A	ENSP00000492004.1:p.Glu93Lys
ENST00000264896.6:c.277G>A	ENSP00000264896.2:p.Glu93Lys
ENST00000452464.6:c.276-5190G>A	ENSP00000399154.2:n.276-5190G>A
ENST00000502908.1:n.141G>A
ENST00000509994.1:c.*80G>A	ENSP00000420988.1:n.*80G>A
NM_001204255.1:c.276-5190G>A	NP_001191184.1:n.276-5190G>A
NM_005506.3:c.277G>A	NP_005497.1:p.Glu93Lys
NM_005506.4:c.277G>A MANE Select	NP_005497.1:p.Glu93Lys
NM_001204255.2:c.276-5190G>A	NP_001191184.1:n.276-5190G>A