Canonical Allele Identifier: CA1581269596
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335463G= , CM000667.2:g.128335463G= GRCh38
NC_000005.9:g.127671155G= , CM000667.1:g.127671155G= GRCh37
NC_000005.8:g.127699054G= NCBI36
NG_008750.1:g.207581C=

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.623C=
ENST00000703785.1:n.704C=
ENST00000262464.9:c.3839C= MANE Select ENSP00000262464.4:p.Ser1280=
ENST00000262464.8:c.3839C= ENSP00000262464.4:p.Ser1280=
ENST00000507835.5:c.389C= ENSP00000426839.1:p.Ser130=
ENST00000508053.5:c.3839C= ENSP00000424571.1:p.Ser1280=
ENST00000508989.5:c.3740C= ENSP00000425596.1:p.Ser1247=
ENST00000619499.4:c.3836C= ENSP00000482132.1:p.Ser1279=
NM_001999.3:c.3839C= NP_001990.2:p.Ser1280=
XM_017009228.2:c.3686C= XP_016864717.1:p.Ser1229=
NM_001999.4:c.3839C= MANE Select NP_001990.2:p.Ser1280=