Canonical Allele Identifier: CA2675118759
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128357360-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357361dup , CM000667.2:g.128357361dup GRCh38
NC_000005.9:g.127693053dup , CM000667.1:g.127693053dup GRCh37
NC_000005.8:g.127720952dup NCBI36
NG_008750.1:g.185683dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2589dup MANE Select ENSP00000262464.4:p.Gly864TrpfsTer13
ENST00000262464.8:c.2589dup ENSP00000262464.4:p.Gly864TrpfsTer13
ENST00000508053.5:c.2589dup ENSP00000424571.1:p.Gly864TrpfsTer13
ENST00000508989.5:c.2490dup ENSP00000425596.1:p.Gly831TrpfsTer13
ENST00000619499.4:c.2586dup ENSP00000482132.1:p.Gly863TrpfsTer13
NM_001999.3:c.2589dup NP_001990.2:p.Gly864TrpfsTer13
XM_017009228.2:c.2436dup XP_016864717.1:p.Gly813TrpfsTer13
NM_001999.4:c.2589dup MANE Select NP_001990.2:p.Gly864TrpfsTer13
Search 100 bp 5'
Search 100 bp 3'