Canonical Allele Identifier: CA1581295301
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395026T= , CM000667.2:g.128395026T= GRCh38
NC_000005.9:g.127730719T= , CM000667.1:g.127730719T= GRCh37
NC_000005.8:g.127758618T= NCBI36
NG_008750.1:g.148017A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.938+96A=
ENST00000262464.9:c.1231+96A= MANE Select ENSP00000262464.4:n.1231+96A=
ENST00000262464.8:c.1231+96A= ENSP00000262464.4:n.1231+96A=
ENST00000508053.5:c.1231+96A= ENSP00000424571.1:n.1231+96A=
ENST00000508989.5:c.1132+96A= ENSP00000425596.1:n.1132+96A=
ENST00000619499.4:c.1228+96A= ENSP00000482132.1:n.1228+96A=
NM_001999.3:c.1231+96A= NP_001990.2:n.1231+96A=
XM_017009228.2:c.1079-1658A= XP_016864717.1:n.1079-1658A=
NM_001999.4:c.1231+96A= MANE Select NP_001990.2:n.1231+96A=
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