Canonical Allele Identifier: CA1581255216
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304611G= , CM000667.2:g.128304611G= GRCh38
NC_000005.9:g.127640303G= , CM000667.1:g.127640303G= GRCh37
NC_000005.8:g.127668202G= NCBI36
NG_008750.1:g.238433C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2584+346C=
ENST00000703785.1:n.2503+346C=
ENST00000262464.9:c.5800+346C= MANE Select ENSP00000262464.4:n.5800+346C=
ENST00000262464.8:c.5800+346C= ENSP00000262464.4:n.5800+346C=
ENST00000508053.5:c.5800+346C= ENSP00000424571.1:n.5800+346C=
ENST00000619499.4:c.5797+346C= ENSP00000482132.1:n.5797+346C=
NM_001999.3:c.5800+346C= NP_001990.2:n.5800+346C=
XM_017009228.2:c.5647+346C= XP_016864717.1:n.5647+346C=
NM_001999.4:c.5800+346C= MANE Select NP_001990.2:n.5800+346C=
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