Canonical Allele Identifier: CA10602681
Community Standard Title: NM_005506.4(SCARB2):c.666_670del (p.Tyr222Ter)
Gene: SCARB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76176474_76176478del , CM000666.2:g.76176474_76176478del GRCh38
NC_000004.11:g.77097627_77097631del , CM000666.1:g.77097627_77097631del GRCh37
NC_000004.10:g.77316651_77316655del NCBI36
NG_012054.1:g.42408_42412del

Transcript Alleles

HGVS Amino-acid Change
NM_005506.4:c.666_670del MANE Select NP_005497.1:p.Tyr222Ter
ENST00000264896.8:c.666_670del MANE Select ENSP00000264896.2:p.Tyr222Ter
NM_001204255.1:c.276-565_276-561del NP_001191184.1:n.276-565_276-561del
NM_001204255.2:c.276-565_276-561del NP_001191184.1:n.276-565_276-561del
NM_005506.3:c.666_670del NP_005497.1:p.Tyr222Ter
ENST00000264896.6:c.666_670del ENSP00000264896.2:p.Tyr222Ter
ENST00000452464.6:c.276-565_276-561del ENSP00000399154.2:n.276-565_276-561del
ENST00000638295.1:c.192_196del ENSP00000492288.1:p.Tyr64Ter
ENST00000638372.1:n.918_922del
ENST00000638603.1:c.666_670del ENSP00000491728.1:p.Tyr222Ter
ENST00000638663.1:c.666_670del ENSP00000491407.1:p.Tyr222Ter
ENST00000638680.1:n.2247_2251del
ENST00000638843.1:n.659_663del
ENST00000639145.1:c.657_661del ENSP00000492831.1:p.Tyr219Ter
ENST00000639300.1:c.613-565_613-561del ENSP00000492840.1:n.613-565_613-561del
ENST00000639324.1:n.765_769del
ENST00000639715.1:c.621_625del
ENST00000639738.1:c.276-10174_276-10170del ENSP00000491792.1:n.276-10174_276-10170del
ENST00000640076.1:n.247_251del
ENST00000640341.1:c.*306_*310del ENSP00000492714.1:n.*306_*310del
ENST00000640634.1:c.787_791del
ENST00000640640.1:c.666_670del ENSP00000492246.1:p.Tyr222Ter
ENST00000640957.1:c.666_670del ENSP00000492004.1:p.Tyr222Ter
ENST00000682785.1:n.642_646del
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