Canonical Allele Identifier: CA1581253443
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300800A= , CM000667.2:g.128300800A= GRCh38
NC_000005.9:g.127636492A= , CM000667.1:g.127636492A= GRCh37
NC_000005.8:g.127664391A= NCBI36
NG_008750.1:g.242244T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2950+17T=
ENST00000703785.1:n.2869+17T=
ENST00000262464.9:c.6166+17T= MANE Select ENSP00000262464.4:n.6166+17T=
ENST00000262464.8:c.6166+17T= ENSP00000262464.4:n.6166+17T=
ENST00000508053.5:c.6166+17T= ENSP00000424571.1:n.6166+17T=
ENST00000619499.4:c.6163+17T= ENSP00000482132.1:n.6163+17T=
NM_001999.3:c.6166+17T= NP_001990.2:n.6166+17T=
XM_017009228.2:c.6013+17T= XP_016864717.1:n.6013+17T=
NM_001999.4:c.6166+17T= MANE Select NP_001990.2:n.6166+17T=
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