Canonical Allele Identifier: CA2604175085
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v3: 5-128300506-T-TA
gnomAD v4: 5-128300506-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300507dup , CM000667.2:g.128300507dup GRCh38
NC_000005.9:g.127636199dup , CM000667.1:g.127636199dup GRCh37
NC_000005.8:g.127664098dup NCBI36
NG_008750.1:g.242537dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2950+310dup
ENST00000703785.1:n.2869+310dup
ENST00000262464.9:c.6166+310dup MANE Select ENSP00000262464.4:n.6166+310dup
ENST00000262464.8:c.6166+310dup ENSP00000262464.4:n.6166+310dup
ENST00000508053.5:c.6166+310dup ENSP00000424571.1:n.6166+310dup
ENST00000619499.4:c.6163+310dup ENSP00000482132.1:n.6163+310dup
NM_001999.3:c.6166+310dup NP_001990.2:n.6166+310dup
XM_017009228.2:c.6013+310dup XP_016864717.1:n.6013+310dup
NM_001999.4:c.6166+310dup MANE Select NP_001990.2:n.6166+310dup
Search 100 bp 5'
Search 100 bp 3'