Canonical Allele Identifier: CA1581261797
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128318839C= , CM000667.2:g.128318839C= GRCh38
NC_000005.9:g.127654531C= , CM000667.1:g.127654531C= GRCh37
NC_000005.8:g.127682430C= NCBI36
NG_008750.1:g.224205G=

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1378+40G=
ENST00000703785.1:n.1459+40G=
ENST00000262464.9:c.4594+40G= MANE Select ENSP00000262464.4:n.4594+40G=
ENST00000262464.8:c.4594+40G= ENSP00000262464.4:n.4594+40G=
ENST00000508053.5:c.4594+40G= ENSP00000424571.1:n.4594+40G=
ENST00000619499.4:c.4591+40G= ENSP00000482132.1:n.4591+40G=
NM_001999.3:c.4594+40G= NP_001990.2:n.4594+40G=
XM_017009228.2:c.4441+40G= XP_016864717.1:n.4441+40G=
NM_001999.4:c.4594+40G= MANE Select NP_001990.2:n.4594+40G=
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