Canonical Allele Identifier: CA1581295281
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128394984C= , CM000667.2:g.128394984C= GRCh38
NC_000005.9:g.127730677C= , CM000667.1:g.127730677C= GRCh37
NC_000005.8:g.127758576C= NCBI36
NG_008750.1:g.148059G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.938+138G=
ENST00000262464.9:c.1231+138G= MANE Select ENSP00000262464.4:n.1231+138G=
ENST00000262464.8:c.1231+138G= ENSP00000262464.4:n.1231+138G=
ENST00000508053.5:c.1231+138G= ENSP00000424571.1:n.1231+138G=
ENST00000508989.5:c.1132+138G= ENSP00000425596.1:n.1132+138G=
ENST00000619499.4:c.1228+138G= ENSP00000482132.1:n.1228+138G=
NM_001999.3:c.1231+138G= NP_001990.2:n.1231+138G=
XM_017009228.2:c.1079-1616G= XP_016864717.1:n.1079-1616G=
NM_001999.4:c.1231+138G= MANE Select NP_001990.2:n.1231+138G=
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