Canonical Allele Identifier: CA1581258946
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1750082541
gnomAD v4: 5-128312534-GTCCTCACTAAACAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128312543_128312556del , CM000667.2:g.128312543_128312556del GRCh38
NC_000005.9:g.127648235_127648248del , CM000667.1:g.127648235_127648248del GRCh37
NC_000005.8:g.127676134_127676147del NCBI36
NG_008750.1:g.230496_230509del

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1663+86_1663+99del
ENST00000703785.1:n.1583-595_1583-582del
ENST00000262464.9:c.4879+86_4879+99del MANE Select ENSP00000262464.4:n.4879+86_4879+99del
ENST00000262464.8:c.4879+86_4879+99del ENSP00000262464.4:n.4879+86_4879+99del
ENST00000508053.5:c.4879+86_4879+99del ENSP00000424571.1:n.4879+86_4879+99del
ENST00000619499.4:c.4876+86_4876+99del ENSP00000482132.1:n.4876+86_4876+99del
NM_001999.3:c.4879+86_4879+99del NP_001990.2:n.4879+86_4879+99del
XM_017009228.2:c.4726+86_4726+99del XP_016864717.1:n.4726+86_4726+99del
NM_001999.4:c.4879+86_4879+99del MANE Select NP_001990.2:n.4879+86_4879+99del
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