Canonical Allele Identifier: CA3394486
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs773878242
ExAC: 5:127636479 AG / A
gnomAD v2: 5-127636479-AG-A
gnomAD v4: 5-128300787-AG-A
MyVariant Identifiers: chr5:g.127636480del (hg19) chr5:g.128300788del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300788del , CM000667.2:g.128300788del GRCh38
NC_000005.9:g.127636480del , CM000667.1:g.127636480del GRCh37
NC_000005.8:g.127664379del NCBI36
NG_008750.1:g.242256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2950+29del
ENST00000703785.1:n.2869+29del
ENST00000262464.9:c.6166+29del MANE Select ENSP00000262464.4:n.6166+29del
ENST00000262464.8:c.6166+29del ENSP00000262464.4:n.6166+29del
ENST00000508053.5:c.6166+29del ENSP00000424571.1:n.6166+29del
ENST00000619499.4:c.6163+29del ENSP00000482132.1:n.6163+29del
NM_001999.3:c.6166+29del NP_001990.2:n.6166+29del
XM_017009228.2:c.6013+29del XP_016864717.1:n.6013+29del
NM_001999.4:c.6166+29del MANE Select NP_001990.2:n.6166+29del
Search 100 bp 5'
Search 100 bp 3'