Canonical Allele Identifier: CA1581253493
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300928C= , CM000667.2:g.128300928C= GRCh38
NC_000005.9:g.127636620C= , CM000667.1:g.127636620C= GRCh37
NC_000005.8:g.127664519C= NCBI36
NG_008750.1:g.242116G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2839G=
ENST00000703785.1:n.2758G=
ENST00000262464.9:c.6055G= MANE Select ENSP00000262464.4:p.Glu2019=
ENST00000262464.8:c.6055G= ENSP00000262464.4:p.Glu2019=
ENST00000508053.5:c.6055G= ENSP00000424571.1:p.Glu2019=
ENST00000619499.4:c.6052G= ENSP00000482132.1:p.Glu2018=
NM_001999.3:c.6055G= NP_001990.2:p.Glu2019=
XM_017009228.2:c.5902G= XP_016864717.1:p.Glu1968=
NM_001999.4:c.6055G= MANE Select NP_001990.2:p.Glu2019=