Canonical Allele Identifier: CA798534513
Gene: SCARB2 HGNC NCBI

Linked Data

dbSNP Id: rs1358822317
gnomAD v3: 4-76179352-C-T
gnomAD v4: 4-76179352-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76179352C>T , CM000666.2:g.76179352C>T GRCh38
NC_000004.11:g.77100505C>T , CM000666.1:g.77100505C>T GRCh37
NC_000004.10:g.77319529C>T NCBI36
NG_012054.1:g.39531G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682785.1:n.588+165G>A
ENST00000264896.8:c.612+165G>A MANE Select ENSP00000264896.2:n.612+165G>A
ENST00000502908.2:n.2278G>A
ENST00000638295.1:c.138+165G>A ENSP00000492288.1:n.138+165G>A
ENST00000638372.1:n.864+165G>A
ENST00000638603.1:c.612+165G>A ENSP00000491728.1:n.612+165G>A
ENST00000638663.1:c.612+165G>A ENSP00000491407.1:n.612+165G>A
ENST00000638680.1:n.2193+165G>A
ENST00000639145.1:c.603+165G>A ENSP00000492831.1:n.603+165G>A
ENST00000639300.1:c.612+165G>A ENSP00000492840.1:n.612+165G>A
ENST00000639324.1:n.711+165G>A
ENST00000639715.1:c.567+165G>A
ENST00000639738.1:c.276-13051G>A ENSP00000491792.1:n.276-13051G>A
ENST00000640076.1:n.193+165G>A
ENST00000640341.1:c.*252+165G>A ENSP00000492714.1:n.*252+165G>A
ENST00000640634.1:c.733+165G>A
ENST00000640640.1:c.612+165G>A ENSP00000492246.1:n.612+165G>A
ENST00000640957.1:c.612+165G>A ENSP00000492004.1:n.612+165G>A
ENST00000264896.6:c.612+165G>A ENSP00000264896.2:n.612+165G>A
ENST00000452464.6:c.276-3442G>A ENSP00000399154.2:n.276-3442G>A
NM_001204255.1:c.276-3442G>A NP_001191184.1:n.276-3442G>A
NM_005506.3:c.612+165G>A NP_005497.1:n.612+165G>A
NM_005506.4:c.612+165G>A MANE Select NP_005497.1:n.612+165G>A
NM_001204255.2:c.276-3442G>A NP_001191184.1:n.276-3442G>A