Canonical Allele Identifier: CA2970330

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 379302
• ClinVar RCV Id: RCV000727074 ; RCV001087300 ; RCV002328931
• dbSNP Id: rs368869126
• ExAC: 4:77100862 C / T
• gnomAD v2: 4-77100862-C-T
• gnomAD v3: 4-76179709-C-T
• gnomAD v4: 4-76179709-C-T
• MyVariant Identifiers: chr4:g.77100862C>T (hg19) ; chr4:g.76179709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179709C>T , CM000666.2:g.76179709C>T	GRCh38
NC_000004.11:g.77100862C>T , CM000666.1:g.77100862C>T	GRCh37
NC_000004.10:g.77319886C>T	NCBI36
NG_012054.1:g.39174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.400-4G>A
ENST00000264896.8:c.424-4G>A MANE Select	ENSP00000264896.2:n.424-4G>A
ENST00000502908.2:n.1921G>A
ENST00000638295.1:c.-51-4G>A	ENSP00000492288.1:n.-51-4G>A
ENST00000638372.1:n.676-4G>A
ENST00000638603.1:c.424-4G>A	ENSP00000491728.1:n.424-4G>A
ENST00000638663.1:c.424-4G>A	ENSP00000491407.1:n.424-4G>A
ENST00000638680.1:n.2001G>A
ENST00000639145.1:c.415-4G>A	ENSP00000492831.1:n.415-4G>A
ENST00000639300.1:c.424-4G>A	ENSP00000492840.1:n.424-4G>A
ENST00000639324.1:n.523-4G>A
ENST00000639715.1:c.389-14G>A
ENST00000639738.1:c.276-13408G>A	ENSP00000491792.1:n.276-13408G>A
ENST00000640076.1:n.1G>A
ENST00000640341.1:c.*60G>A	ENSP00000492714.1:n.*60G>A
ENST00000640634.1:c.545-4G>A
ENST00000640640.1:c.424-4G>A	ENSP00000492246.1:n.424-4G>A
ENST00000640916.1:n.352-4G>A
ENST00000640957.1:c.424-4G>A	ENSP00000492004.1:n.424-4G>A
ENST00000264896.6:c.424-4G>A	ENSP00000264896.2:n.424-4G>A
ENST00000452464.6:c.276-3799G>A	ENSP00000399154.2:n.276-3799G>A
NM_001204255.1:c.276-3799G>A	NP_001191184.1:n.276-3799G>A
NM_005506.3:c.424-4G>A	NP_005497.1:n.424-4G>A
NM_005506.4:c.424-4G>A MANE Select	NP_005497.1:n.424-4G>A
NM_001204255.2:c.276-3799G>A	NP_001191184.1:n.276-3799G>A