Canonical Allele Identifier: CA2675118760
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128357387-CATTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357390_128357393del , CM000667.2:g.128357390_128357393del GRCh38
NC_000005.9:g.127693082_127693085del , CM000667.1:g.127693082_127693085del GRCh37
NC_000005.8:g.127720981_127720984del NCBI36
NG_008750.1:g.185653_185656del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2559_2562del MANE Select ENSP00000262464.4:p.Ile853MetfsTer?
ENST00000262464.8:c.2559_2562del ENSP00000262464.4:p.Ile853MetfsTer?
ENST00000508053.5:c.2559_2562del ENSP00000424571.1:p.Ile853MetfsTer?
ENST00000508989.5:c.2460_2463del ENSP00000425596.1:p.Ile820MetfsTer?
ENST00000619499.4:c.2556_2559del ENSP00000482132.1:p.Ile852MetfsTer?
NM_001999.3:c.2559_2562del NP_001990.2:p.Ile853MetfsTer?
XM_017009228.2:c.2406_2409del XP_016864717.1:p.Ile802MetfsTer?
NM_001999.4:c.2559_2562del MANE Select NP_001990.2:p.Ile853MetfsTer?
Search 100 bp 5'
Search 100 bp 3'