Canonical Allele Identifier: CA2578395545
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261758_128261760dup , CM000667.2:g.128261758_128261760dup GRCh38
NC_000005.9:g.127597450_127597452dup , CM000667.1:g.127597450_127597452dup GRCh37
NC_000005.8:g.127625349_127625351dup NCBI36
NG_008750.1:g.281285_281287dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8341_8343dup MANE Select ENSP00000262464.4:p.Ile2781_His2782insIle
ENST00000262464.8:c.8341_8343dup ENSP00000262464.4:p.Ile2781_His2782insIle
ENST00000508053.5:c.8341_8343dup ENSP00000424571.1:p.Ile2781_His2782insIle
ENST00000619499.4:c.8338_8340dup ENSP00000482132.1:p.Ile2780_His2781insIle
NM_001999.3:c.8341_8343dup NP_001990.2:p.Ile2781_His2782insIle
XM_017009228.2:c.8188_8190dup XP_016864717.1:p.Ile2730_His2731insIle
NM_001999.4:c.8341_8343dup MANE Select NP_001990.2:p.Ile2781_His2782insIle
Search 100 bp 5'
Search 100 bp 3'