Canonical Allele Identifier: CA357327028

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 2154426
• ClinVar RCV Id: RCV003069278
• dbSNP Id: rs1469458611
• gnomAD v2: 4-77100842-G-A
• gnomAD v4: 4-76179689-G-A
• MyVariant Identifiers: chr4:g.77100842G>A (hg19) ; chr4:g.76179689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179689G>A , CM000666.2:g.76179689G>A	GRCh38
NC_000004.11:g.77100842G>A , CM000666.1:g.77100842G>A	GRCh37
NC_000004.10:g.77319866G>A	NCBI36
NG_012054.1:g.39194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.416C>T
ENST00000264896.8:c.440C>T MANE Select	ENSP00000264896.2:p.Ser147Phe
ENST00000502908.2:n.1941C>T
ENST00000638295.1:c.-35C>T	ENSP00000492288.1:n.-35C>T
ENST00000638372.1:n.692C>T
ENST00000638603.1:c.440C>T	ENSP00000491728.1:p.Ser147Phe
ENST00000638663.1:c.440C>T	ENSP00000491407.1:p.Ser147Phe
ENST00000638680.1:n.2021C>T
ENST00000639145.1:c.431C>T	ENSP00000492831.1:p.Ser144Phe
ENST00000639300.1:c.440C>T	ENSP00000492840.1:p.Ser147Phe
ENST00000639324.1:n.539C>T
ENST00000639715.1:c.395C>T
ENST00000639738.1:c.276-13388C>T	ENSP00000491792.1:n.276-13388C>T
ENST00000640076.1:n.21C>T
ENST00000640341.1:c.*80C>T	ENSP00000492714.1:n.*80C>T
ENST00000640634.1:c.561C>T
ENST00000640640.1:c.440C>T	ENSP00000492246.1:p.Ser147Phe
ENST00000640916.1:n.368C>T
ENST00000640957.1:c.440C>T	ENSP00000492004.1:p.Ser147Phe
ENST00000264896.6:c.440C>T	ENSP00000264896.2:p.Ser147Phe
ENST00000452464.6:c.276-3779C>T	ENSP00000399154.2:n.276-3779C>T
NM_001204255.1:c.276-3779C>T	NP_001191184.1:n.276-3779C>T
NM_005506.3:c.440C>T	NP_005497.1:p.Ser147Phe
NM_005506.4:c.440C>T MANE Select	NP_005497.1:p.Ser147Phe
NM_001204255.2:c.276-3779C>T	NP_001191184.1:n.276-3779C>T