Canonical Allele Identifier: CA213020
Community Standard Title: NM_005506.4(SCARB2):c.1187+2dup
Gene: SCARB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76168401dup , CM000666.2:g.76168401dup GRCh38
NC_000004.11:g.77089554dup , CM000666.1:g.77089554dup GRCh37
NC_000004.10:g.77308578dup NCBI36
NG_012054.1:g.50482dup

Transcript Alleles

HGVS Amino-acid Change
NM_005506.4:c.1187+2dup MANE Select NP_005497.1:n.1187+2dup
ENST00000264896.8:c.1187+2dup MANE Select ENSP00000264896.2:n.1187+2dup
NM_001204255.1:c.758+2dup NP_001191184.1:n.758+2dup
NM_001204255.2:c.758+2dup NP_001191184.1:n.758+2dup
NM_005506.3:c.1187+2dup NP_005497.1:n.1187+2dup
ENST00000264896.6:c.1187+2dup ENSP00000264896.2:n.1187+2dup
ENST00000452464.6:c.758+2dup ENSP00000399154.2:n.758+2dup
ENST00000638295.1:c.713+2dup ENSP00000492288.1:n.713+2dup
ENST00000638372.1:n.1439+2dup
ENST00000638603.1:c.1067+2dup ENSP00000491728.1:n.1067+2dup
ENST00000638663.1:c.1187+2dup ENSP00000491407.1:n.1187+2dup
ENST00000638680.1:n.2768+2dup
ENST00000639145.1:c.1178+2dup ENSP00000492831.1:n.1178+2dup
ENST00000639300.1:c.*474+2dup ENSP00000492840.1:n.*474+2dup
ENST00000639715.1:c.1142+2dup
ENST00000639738.1:c.276-2100dup ENSP00000491792.1:n.276-2100dup
ENST00000640341.1:c.*827+2dup ENSP00000492714.1:n.*827+2dup
ENST00000640634.1:c.1308+2dup
ENST00000640640.1:c.1187+2dup ENSP00000492246.1:n.1187+2dup
ENST00000640957.1:c.1187+2dup ENSP00000492004.1:n.1187+2dup
ENST00000682785.1:n.1163+2dup