Canonical Allele Identifier: CA2970310

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 462926
• ClinVar RCV Id: RCV000535628 ; RCV001591223 ; RCV003139761
• dbSNP Id: rs773017713
• ExAC: 4:77100702 C / T
• gnomAD v2: 4-77100702-C-T
• gnomAD v3: 4-76179549-C-T
• gnomAD v4: 4-76179549-C-T
• MyVariant Identifiers: chr4:g.77100702C>T (hg19) ; chr4:g.76179549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179549C>T , CM000666.2:g.76179549C>T	GRCh38
NC_000004.11:g.77100702C>T , CM000666.1:g.77100702C>T	GRCh37
NC_000004.10:g.77319726C>T	NCBI36
NG_012054.1:g.39334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.556G>A
ENST00000264896.8:c.580G>A MANE Select	ENSP00000264896.2:p.Asp194Asn
ENST00000502908.2:n.2081G>A
ENST00000638295.1:c.106G>A	ENSP00000492288.1:p.Asp36Asn
ENST00000638372.1:n.832G>A
ENST00000638603.1:c.580G>A	ENSP00000491728.1:p.Asp194Asn
ENST00000638663.1:c.580G>A	ENSP00000491407.1:p.Asp194Asn
ENST00000638680.1:n.2161G>A
ENST00000639145.1:c.571G>A	ENSP00000492831.1:p.Asp191Asn
ENST00000639300.1:c.580G>A	ENSP00000492840.1:p.Asp194Asn
ENST00000639324.1:n.679G>A
ENST00000639715.1:c.535G>A
ENST00000639738.1:c.276-13248G>A	ENSP00000491792.1:n.276-13248G>A
ENST00000640076.1:n.161G>A
ENST00000640341.1:c.*220G>A	ENSP00000492714.1:n.*220G>A
ENST00000640634.1:c.701G>A
ENST00000640640.1:c.580G>A	ENSP00000492246.1:p.Asp194Asn
ENST00000640916.1:n.508G>A
ENST00000640957.1:c.580G>A	ENSP00000492004.1:p.Asp194Asn
ENST00000264896.6:c.580G>A	ENSP00000264896.2:p.Asp194Asn
ENST00000452464.6:c.276-3639G>A	ENSP00000399154.2:n.276-3639G>A
NM_001204255.1:c.276-3639G>A	NP_001191184.1:n.276-3639G>A
NM_005506.3:c.580G>A	NP_005497.1:p.Asp194Asn
NM_005506.4:c.580G>A MANE Select	NP_005497.1:p.Asp194Asn
NM_001204255.2:c.276-3639G>A	NP_001191184.1:n.276-3639G>A