Canonical Allele Identifier: CA1581255404
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305028T= , CM000667.2:g.128305028T= GRCh38
NC_000005.9:g.127640720T= , CM000667.1:g.127640720T= GRCh37
NC_000005.8:g.127668619T= NCBI36
NG_008750.1:g.238016A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2513A=
ENST00000703785.1:n.2432A=
ENST00000262464.9:c.5729A= MANE Select ENSP00000262464.4:p.Asp1910=
ENST00000262464.8:c.5729A= ENSP00000262464.4:p.Asp1910=
ENST00000508053.5:c.5729A= ENSP00000424571.1:p.Asp1910=
ENST00000619499.4:c.5726A= ENSP00000482132.1:p.Asp1909=
NM_001999.3:c.5729A= NP_001990.2:p.Asp1910=
XM_017009228.2:c.5576A= XP_016864717.1:p.Asp1859=
NM_001999.4:c.5729A= MANE Select NP_001990.2:p.Asp1910=