Canonical Allele Identifier: CA2675115639
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128312494-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128312494G>T , CM000667.2:g.128312494G>T GRCh38
NC_000005.9:g.127648186G>T , CM000667.1:g.127648186G>T GRCh37
NC_000005.8:g.127676085G>T NCBI36
NG_008750.1:g.230550C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1663+140C>A
ENST00000703785.1:n.1583-541C>A
ENST00000262464.9:c.4879+140C>A MANE Select ENSP00000262464.4:n.4879+140C>A
ENST00000262464.8:c.4879+140C>A ENSP00000262464.4:n.4879+140C>A
ENST00000508053.5:c.4879+140C>A ENSP00000424571.1:n.4879+140C>A
ENST00000619499.4:c.4876+140C>A ENSP00000482132.1:n.4876+140C>A
NM_001999.3:c.4879+140C>A NP_001990.2:n.4879+140C>A
XM_017009228.2:c.4726+140C>A XP_016864717.1:n.4726+140C>A
NM_001999.4:c.4879+140C>A MANE Select NP_001990.2:n.4879+140C>A
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