Canonical Allele Identifier: CA1581253248
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300411A= , CM000667.2:g.128300411A= GRCh38
NC_000005.9:g.127636103A= , CM000667.1:g.127636103A= GRCh37
NC_000005.8:g.127664002A= NCBI36
NG_008750.1:g.242633T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2950+406T=
ENST00000703785.1:n.2869+406T=
ENST00000262464.9:c.6166+406T= MANE Select ENSP00000262464.4:n.6166+406T=
ENST00000262464.8:c.6166+406T= ENSP00000262464.4:n.6166+406T=
ENST00000508053.5:c.6166+406T= ENSP00000424571.1:n.6166+406T=
ENST00000619499.4:c.6163+406T= ENSP00000482132.1:n.6163+406T=
NM_001999.3:c.6166+406T= NP_001990.2:n.6166+406T=
XM_017009228.2:c.6013+406T= XP_016864717.1:n.6013+406T=
NM_001999.4:c.6166+406T= MANE Select NP_001990.2:n.6166+406T=
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