Canonical Allele Identifier: CA1581273635
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344201T= , CM000667.2:g.128344201T= GRCh38
NC_000005.9:g.127679893T= , CM000667.1:g.127679893T= GRCh37
NC_000005.8:g.127707792T= NCBI36
NG_008750.1:g.198843A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.3343+184A= MANE Select ENSP00000262464.4:n.3343+184A=
ENST00000262464.8:c.3343+184A= ENSP00000262464.4:n.3343+184A=
ENST00000508053.5:c.3343+184A= ENSP00000424571.1:n.3343+184A=
ENST00000508989.5:c.3244+184A= ENSP00000425596.1:n.3244+184A=
ENST00000619499.4:c.3340+184A= ENSP00000482132.1:n.3340+184A=
NM_001999.3:c.3343+184A= NP_001990.2:n.3343+184A=
XM_017009228.2:c.3190+184A= XP_016864717.1:n.3190+184A=
NM_001999.4:c.3343+184A= MANE Select NP_001990.2:n.3343+184A=
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