Canonical Allele Identifier: CA2970238

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 406875
• ClinVar RCV Id: RCV000464893 ; RCV001508151 ; RCV002506113 ; RCV003925314 ; RCV002411444
• dbSNP Id: rs149997095
• ExAC: 4:77095440 T / G
• gnomAD v2: 4-77095440-T-G
• gnomAD v3: 4-76174287-T-G
• gnomAD v4: 4-76174287-T-G
• MyVariant Identifiers: chr4:g.77095440T>G (hg19) ; chr4:g.76174287T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76174287T>G , CM000666.2:g.76174287T>G	GRCh38
NC_000004.11:g.77095440T>G , CM000666.1:g.77095440T>G	GRCh37
NC_000004.10:g.77314464T>G	NCBI36
NG_012054.1:g.44596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.827A>C
ENST00000264896.8:c.851A>C MANE Select	ENSP00000264896.2:p.Tyr284Ser
ENST00000638175.1:n.488A>C
ENST00000638295.1:c.377A>C	ENSP00000492288.1:p.Tyr126Ser
ENST00000638372.1:n.1103A>C
ENST00000638409.1:n.1166A>C
ENST00000638603.1:c.731A>C	ENSP00000491728.1:p.Tyr244Ser
ENST00000638663.1:c.851A>C	ENSP00000491407.1:p.Tyr284Ser
ENST00000638680.1:n.2432A>C
ENST00000638843.1:n.844A>C
ENST00000639145.1:c.842A>C	ENSP00000492831.1:p.Tyr281Ser
ENST00000639300.1:c.*138A>C	ENSP00000492840.1:n.*138A>C
ENST00000639715.1:c.806A>C
ENST00000639738.1:c.276-7986A>C	ENSP00000491792.1:n.276-7986A>C
ENST00000640076.1:n.432A>C
ENST00000640341.1:c.*491A>C	ENSP00000492714.1:n.*491A>C
ENST00000640634.1:c.972A>C
ENST00000640640.1:c.851A>C	ENSP00000492246.1:p.Tyr284Ser
ENST00000640957.1:c.851A>C	ENSP00000492004.1:p.Tyr284Ser
ENST00000264896.6:c.851A>C	ENSP00000264896.2:p.Tyr284Ser
ENST00000452464.6:c.422A>C	ENSP00000399154.2:p.Tyr141Ser
NM_001204255.1:c.422A>C	NP_001191184.1:p.Tyr141Ser
NM_005506.3:c.851A>C	NP_005497.1:p.Tyr284Ser
NM_005506.4:c.851A>C MANE Select	NP_005497.1:p.Tyr284Ser
NM_001204255.2:c.422A>C	NP_001191184.1:p.Tyr141Ser