Canonical Allele Identifier: CA2970346

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 462924
• ClinVar RCV Id: RCV000530167 ; RCV001254984 ; RCV002358493 ; RCV002497113 ; RCV003480673
• dbSNP Id: rs143558324
• ExAC: 4:77102148 G / A
• gnomAD v2: 4-77102148-G-A
• gnomAD v4: 4-76180995-G-A
• MyVariant Identifiers: chr4:g.77102148G>A (hg19) ; chr4:g.76180995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76180995G>A , CM000666.2:g.76180995G>A	GRCh38
NC_000004.11:g.77102148G>A , CM000666.1:g.77102148G>A	GRCh37
NC_000004.10:g.77321172G>A	NCBI36
NG_012054.1:g.37888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.358C>T
ENST00000264896.8:c.382C>T MANE Select	ENSP00000264896.2:p.Pro128Ser
ENST00000502908.2:n.635C>T
ENST00000638295.1:c.-93C>T	ENSP00000492288.1:n.-93C>T
ENST00000638372.1:n.634C>T
ENST00000638603.1:c.382C>T	ENSP00000491728.1:p.Pro128Ser
ENST00000638663.1:c.382C>T	ENSP00000491407.1:p.Pro128Ser
ENST00000638680.1:n.715C>T
ENST00000639145.1:c.373C>T	ENSP00000492831.1:p.Pro125Ser
ENST00000639300.1:c.382C>T	ENSP00000492840.1:p.Pro128Ser
ENST00000639324.1:n.481C>T
ENST00000639715.1:c.347C>T
ENST00000639738.1:c.276-14694C>T	ENSP00000491792.1:n.276-14694C>T
ENST00000640341.1:c.382C>T	ENSP00000492714.1:p.Pro128Ser
ENST00000640634.1:c.359C>T
ENST00000640640.1:c.382C>T	ENSP00000492246.1:p.Pro128Ser
ENST00000640916.1:n.310C>T
ENST00000640957.1:c.382C>T	ENSP00000492004.1:p.Pro128Ser
ENST00000264896.6:c.382C>T	ENSP00000264896.2:p.Pro128Ser
ENST00000452464.6:c.276-5085C>T	ENSP00000399154.2:n.276-5085C>T
ENST00000502908.1:n.246C>T
NM_001204255.1:c.276-5085C>T	NP_001191184.1:n.276-5085C>T
NM_005506.3:c.382C>T	NP_005497.1:p.Pro128Ser
NM_005506.4:c.382C>T MANE Select	NP_005497.1:p.Pro128Ser
NM_001204255.2:c.276-5085C>T	NP_001191184.1:n.276-5085C>T