Canonical Allele Identifier: CA99838874

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 1051325
• ClinVar RCV Id: RCV001359345 ; RCV002357214
• dbSNP Id: rs1019363350
• gnomAD v2: 4-77100665-C-T
• gnomAD v3: 4-76179512-C-T
• gnomAD v4: 4-76179512-C-T
• MyVariant Identifiers: chr4:g.77100665C>T (hg19) ; chr4:g.76179512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179512C>T , CM000666.2:g.76179512C>T	GRCh38
NC_000004.11:g.77100665C>T , CM000666.1:g.77100665C>T	GRCh37
NC_000004.10:g.77319689C>T	NCBI36
NG_012054.1:g.39371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+5G>A
ENST00000264896.8:c.612+5G>A MANE Select	ENSP00000264896.2:n.612+5G>A
ENST00000502908.2:n.2118G>A
ENST00000638295.1:c.138+5G>A	ENSP00000492288.1:n.138+5G>A
ENST00000638372.1:n.864+5G>A
ENST00000638603.1:c.612+5G>A	ENSP00000491728.1:n.612+5G>A
ENST00000638663.1:c.612+5G>A	ENSP00000491407.1:n.612+5G>A
ENST00000638680.1:n.2193+5G>A
ENST00000639145.1:c.603+5G>A	ENSP00000492831.1:n.603+5G>A
ENST00000639300.1:c.612+5G>A	ENSP00000492840.1:n.612+5G>A
ENST00000639324.1:n.711+5G>A
ENST00000639715.1:c.567+5G>A
ENST00000639738.1:c.276-13211G>A	ENSP00000491792.1:n.276-13211G>A
ENST00000640076.1:n.193+5G>A
ENST00000640341.1:c.*252+5G>A	ENSP00000492714.1:n.*252+5G>A
ENST00000640634.1:c.733+5G>A
ENST00000640640.1:c.612+5G>A	ENSP00000492246.1:n.612+5G>A
ENST00000640916.1:n.545G>A
ENST00000640957.1:c.612+5G>A	ENSP00000492004.1:n.612+5G>A
ENST00000264896.6:c.612+5G>A	ENSP00000264896.2:n.612+5G>A
ENST00000452464.6:c.276-3602G>A	ENSP00000399154.2:n.276-3602G>A
NM_001204255.1:c.276-3602G>A	NP_001191184.1:n.276-3602G>A
NM_005506.3:c.612+5G>A	NP_005497.1:n.612+5G>A
NM_005506.4:c.612+5G>A MANE Select	NP_005497.1:n.612+5G>A
NM_001204255.2:c.276-3602G>A	NP_001191184.1:n.276-3602G>A