Canonical Allele Identifier: CA2675117525
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128338037-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338040del , CM000667.2:g.128338040del GRCh38
NC_000005.9:g.127673732del , CM000667.1:g.127673732del GRCh37
NC_000005.8:g.127701631del NCBI36
NG_008750.1:g.205006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.341del
ENST00000703785.1:n.422del
ENST00000262464.9:c.3557del MANE Select ENSP00000262464.4:p.Pro1186HisfsTer21
ENST00000262464.8:c.3557del ENSP00000262464.4:p.Pro1186HisfsTer21
ENST00000507835.5:c.107del ENSP00000426839.1:p.Pro36HisfsTer21
ENST00000508053.5:c.3557del ENSP00000424571.1:p.Pro1186HisfsTer21
ENST00000508989.5:c.3458del ENSP00000425596.1:p.Pro1153HisfsTer21
ENST00000619499.4:c.3554del ENSP00000482132.1:p.Pro1185HisfsTer21
NM_001999.3:c.3557del NP_001990.2:p.Pro1186HisfsTer21
XM_017009228.2:c.3404del XP_016864717.1:p.Pro1135HisfsTer21
NM_001999.4:c.3557del MANE Select NP_001990.2:p.Pro1186HisfsTer21
Search 100 bp 5'
Search 100 bp 3'