Canonical Allele Identifier: CA360757555
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs2126896968

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335279T>A , CM000667.2:g.128335279T>A GRCh38
NC_000005.9:g.127670971T>A , CM000667.1:g.127670971T>A GRCh37
NC_000005.8:g.127698870T>A NCBI36
NG_008750.1:g.207765A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.648A>T
ENST00000703785.1:n.729A>T
ENST00000262464.9:c.3864A>T MANE Select ENSP00000262464.4:p.Glu1288Asp
ENST00000262464.8:c.3864A>T ENSP00000262464.4:p.Glu1288Asp
ENST00000507835.5:c.414A>T ENSP00000426839.1:p.Glu138Asp
ENST00000508053.5:c.3864A>T ENSP00000424571.1:p.Glu1288Asp
ENST00000508989.5:c.3765A>T ENSP00000425596.1:p.Glu1255Asp
ENST00000619499.4:c.3861A>T ENSP00000482132.1:p.Glu1287Asp
NM_001999.3:c.3864A>T NP_001990.2:p.Glu1288Asp
XM_017009228.2:c.3711A>T XP_016864717.1:p.Glu1237Asp
NM_001999.4:c.3864A>T MANE Select NP_001990.2:p.Glu1288Asp