Canonical Allele Identifier: CA1581269638
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335574A= , CM000667.2:g.128335574A= GRCh38
NC_000005.9:g.127671266A= , CM000667.1:g.127671266A= GRCh37
NC_000005.8:g.127699165A= NCBI36
NG_008750.1:g.207470T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.512T=
ENST00000703785.1:n.593T=
ENST00000262464.9:c.3728T= MANE Select ENSP00000262464.4:p.Ile1243=
ENST00000262464.8:c.3728T= ENSP00000262464.4:p.Ile1243=
ENST00000507835.5:c.278T= ENSP00000426839.1:p.Ile93=
ENST00000508053.5:c.3728T= ENSP00000424571.1:p.Ile1243=
ENST00000508989.5:c.3629T= ENSP00000425596.1:p.Ile1210=
ENST00000619499.4:c.3725T= ENSP00000482132.1:p.Ile1242=
NM_001999.3:c.3728T= NP_001990.2:p.Ile1243=
XM_017009228.2:c.3575T= XP_016864717.1:p.Ile1192=
NM_001999.4:c.3728T= MANE Select NP_001990.2:p.Ile1243=