Canonical Allele Identifier: CA317056

Gene: SCARB2

Linked Data

• ClinVar Variation Id: 206703
• ClinVar RCV Id: RCV000188789 ; RCV002054224 ; RCV002500577
• dbSNP Id: rs199686576
• ExAC: 4:77097574 A / G
• gnomAD v2: 4-77097574-A-G
• gnomAD v3: 4-76176421-A-G
• gnomAD v4: 4-76176421-A-G
• MyVariant Identifiers: chr4:g.77097574A>G (hg19) ; chr4:g.76176421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76176421A>G , CM000666.2:g.76176421A>G	GRCh38
NC_000004.11:g.77097574A>G , CM000666.1:g.77097574A>G	GRCh37
NC_000004.10:g.77316598A>G	NCBI36
NG_012054.1:g.42462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.680+16T>C
ENST00000264896.8:c.704+16T>C MANE Select	ENSP00000264896.2:n.704+16T>C
ENST00000638295.1:c.230+16T>C	ENSP00000492288.1:n.230+16T>C
ENST00000638372.1:n.956+16T>C
ENST00000638603.1:c.704+16T>C	ENSP00000491728.1:n.704+16T>C
ENST00000638663.1:c.704+16T>C	ENSP00000491407.1:n.704+16T>C
ENST00000638680.1:n.2285+16T>C
ENST00000638843.1:n.697+16T>C
ENST00000639145.1:c.695+16T>C	ENSP00000492831.1:n.695+16T>C
ENST00000639300.1:c.613-511T>C	ENSP00000492840.1:n.613-511T>C
ENST00000639324.1:n.803+16T>C
ENST00000639715.1:c.659+16T>C
ENST00000639738.1:c.276-10120T>C	ENSP00000491792.1:n.276-10120T>C
ENST00000640076.1:n.285+16T>C
ENST00000640341.1:c.*344+16T>C	ENSP00000492714.1:n.*344+16T>C
ENST00000640634.1:c.825+16T>C
ENST00000640640.1:c.704+16T>C	ENSP00000492246.1:n.704+16T>C
ENST00000640957.1:c.704+16T>C	ENSP00000492004.1:n.704+16T>C
ENST00000264896.6:c.704+16T>C	ENSP00000264896.2:n.704+16T>C
ENST00000452464.6:c.276-511T>C	ENSP00000399154.2:n.276-511T>C
NM_001204255.1:c.276-511T>C	NP_001191184.1:n.276-511T>C
NM_005506.3:c.704+16T>C	NP_005497.1:n.704+16T>C
NM_005506.4:c.704+16T>C MANE Select	NP_005497.1:n.704+16T>C
NM_001204255.2:c.276-511T>C	NP_001191184.1:n.276-511T>C