Canonical Allele Identifier: CA357326751
Gene: SCARB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76179567T>C , CM000666.2:g.76179567T>C GRCh38
NC_000004.11:g.77100720T>C , CM000666.1:g.77100720T>C GRCh37
NC_000004.10:g.77319744T>C NCBI36
NG_012054.1:g.39316A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682785.1:n.538A>G
ENST00000264896.8:c.562A>G MANE Select ENSP00000264896.2:p.Ile188Val
ENST00000502908.2:n.2063A>G
ENST00000638295.1:c.88A>G ENSP00000492288.1:p.Ile30Val
ENST00000638372.1:n.814A>G
ENST00000638603.1:c.562A>G ENSP00000491728.1:p.Ile188Val
ENST00000638663.1:c.562A>G ENSP00000491407.1:p.Ile188Val
ENST00000638680.1:n.2143A>G
ENST00000639145.1:c.553A>G ENSP00000492831.1:p.Ile185Val
ENST00000639300.1:c.562A>G ENSP00000492840.1:p.Ile188Val
ENST00000639324.1:n.661A>G
ENST00000639715.1:c.517A>G
ENST00000639738.1:c.276-13266A>G ENSP00000491792.1:n.276-13266A>G
ENST00000640076.1:n.143A>G
ENST00000640341.1:c.*202A>G ENSP00000492714.1:n.*202A>G
ENST00000640634.1:c.683A>G
ENST00000640640.1:c.562A>G ENSP00000492246.1:p.Ile188Val
ENST00000640916.1:n.490A>G
ENST00000640957.1:c.562A>G ENSP00000492004.1:p.Ile188Val
ENST00000264896.6:c.562A>G ENSP00000264896.2:p.Ile188Val
ENST00000452464.6:c.276-3657A>G ENSP00000399154.2:n.276-3657A>G
NM_001204255.1:c.276-3657A>G NP_001191184.1:n.276-3657A>G
NM_005506.3:c.562A>G NP_005497.1:p.Ile188Val
NM_005506.4:c.562A>G MANE Select NP_005497.1:p.Ile188Val
NM_001204255.2:c.276-3657A>G NP_001191184.1:n.276-3657A>G