Canonical Allele Identifier: CA2970316

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 1536329
• ClinVar RCV Id: RCV002090269 ; RCV002507860
• dbSNP Id: rs375051752
• ExAC: 4:77100760 G / A
• gnomAD v2: 4-77100760-G-A
• gnomAD v3: 4-76179607-G-A
• gnomAD v4: 4-76179607-G-A
• MyVariant Identifiers: chr4:g.77100760G>A (hg19) ; chr4:g.76179607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179607G>A , CM000666.2:g.76179607G>A	GRCh38
NC_000004.11:g.77100760G>A , CM000666.1:g.77100760G>A	GRCh37
NC_000004.10:g.77319784G>A	NCBI36
NG_012054.1:g.39276C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.498C>T
ENST00000264896.8:c.522C>T MANE Select	ENSP00000264896.2:p.Asp174=
ENST00000502908.2:n.2023C>T
ENST00000638295.1:c.48C>T	ENSP00000492288.1:p.Asp16=
ENST00000638372.1:n.774C>T
ENST00000638603.1:c.522C>T	ENSP00000491728.1:p.Asp174=
ENST00000638663.1:c.522C>T	ENSP00000491407.1:p.Asp174=
ENST00000638680.1:n.2103C>T
ENST00000639145.1:c.513C>T	ENSP00000492831.1:p.Asp171=
ENST00000639300.1:c.522C>T	ENSP00000492840.1:p.Asp174=
ENST00000639324.1:n.621C>T
ENST00000639715.1:c.477C>T
ENST00000639738.1:c.276-13306C>T	ENSP00000491792.1:n.276-13306C>T
ENST00000640076.1:n.103C>T
ENST00000640341.1:c.*162C>T	ENSP00000492714.1:n.*162C>T
ENST00000640634.1:c.643C>T
ENST00000640640.1:c.522C>T	ENSP00000492246.1:p.Asp174=
ENST00000640916.1:n.450C>T
ENST00000640957.1:c.522C>T	ENSP00000492004.1:p.Asp174=
ENST00000264896.6:c.522C>T	ENSP00000264896.2:p.Asp174=
ENST00000452464.6:c.276-3697C>T	ENSP00000399154.2:n.276-3697C>T
NM_001204255.1:c.276-3697C>T	NP_001191184.1:n.276-3697C>T
NM_005506.3:c.522C>T	NP_005497.1:p.Asp174=
NM_005506.4:c.522C>T MANE Select	NP_005497.1:p.Asp174=
NM_001204255.2:c.276-3697C>T	NP_001191184.1:n.276-3697C>T