Canonical Allele Identifier: CA1581273644
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344215C= , CM000667.2:g.128344215C= GRCh38
NC_000005.9:g.127679907C= , CM000667.1:g.127679907C= GRCh37
NC_000005.8:g.127707806C= NCBI36
NG_008750.1:g.198829G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.3343+170G= MANE Select ENSP00000262464.4:n.3343+170G=
ENST00000262464.8:c.3343+170G= ENSP00000262464.4:n.3343+170G=
ENST00000508053.5:c.3343+170G= ENSP00000424571.1:n.3343+170G=
ENST00000508989.5:c.3244+170G= ENSP00000425596.1:n.3244+170G=
ENST00000619499.4:c.3340+170G= ENSP00000482132.1:n.3340+170G=
NM_001999.3:c.3343+170G= NP_001990.2:n.3343+170G=
XM_017009228.2:c.3190+170G= XP_016864717.1:n.3190+170G=
NM_001999.4:c.3343+170G= MANE Select NP_001990.2:n.3343+170G=
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