Canonical Allele Identifier: CA357326958

Gene: SCARB2

Linked Data

• dbSNP Id: rs1301216802
• gnomAD v2: 4-77100810-C-T
• MyVariant Identifiers: chr4:g.77100810C>T (hg19) ; chr4:g.76179657C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179657C>T , CM000666.2:g.76179657C>T	GRCh38
NC_000004.11:g.77100810C>T , CM000666.1:g.77100810C>T	GRCh37
NC_000004.10:g.77319834C>T	NCBI36
NG_012054.1:g.39226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.448G>A
ENST00000264896.8:c.472G>A MANE Select	ENSP00000264896.2:p.Ala158Thr
ENST00000502908.2:n.1973G>A
ENST00000638295.1:c.-3G>A	ENSP00000492288.1:n.-3G>A
ENST00000638372.1:n.724G>A
ENST00000638603.1:c.472G>A	ENSP00000491728.1:p.Ala158Thr
ENST00000638663.1:c.472G>A	ENSP00000491407.1:p.Ala158Thr
ENST00000638680.1:n.2053G>A
ENST00000639145.1:c.463G>A	ENSP00000492831.1:p.Ala155Thr
ENST00000639300.1:c.472G>A	ENSP00000492840.1:p.Ala158Thr
ENST00000639324.1:n.571G>A
ENST00000639715.1:c.427G>A
ENST00000639738.1:c.276-13356G>A	ENSP00000491792.1:n.276-13356G>A
ENST00000640076.1:n.53G>A
ENST00000640341.1:c.*112G>A	ENSP00000492714.1:n.*112G>A
ENST00000640634.1:c.593G>A
ENST00000640640.1:c.472G>A	ENSP00000492246.1:p.Ala158Thr
ENST00000640916.1:n.400G>A
ENST00000640957.1:c.472G>A	ENSP00000492004.1:p.Ala158Thr
ENST00000264896.6:c.472G>A	ENSP00000264896.2:p.Ala158Thr
ENST00000452464.6:c.276-3747G>A	ENSP00000399154.2:n.276-3747G>A
NM_001204255.1:c.276-3747G>A	NP_001191184.1:n.276-3747G>A
NM_005506.3:c.472G>A	NP_005497.1:p.Ala158Thr
NM_005506.4:c.472G>A MANE Select	NP_005497.1:p.Ala158Thr
NM_001204255.2:c.276-3747G>A	NP_001191184.1:n.276-3747G>A