Canonical Allele Identifier: CA360739845
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304988A>T , CM000667.2:g.128304988A>T GRCh38
NC_000005.9:g.127640680A>T , CM000667.1:g.127640680A>T GRCh37
NC_000005.8:g.127668579A>T NCBI36
NG_008750.1:g.238056T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2553T>A
ENST00000703785.1:n.2472T>A
ENST00000262464.9:c.5769T>A MANE Select ENSP00000262464.4:p.Phe1923Leu
ENST00000262464.8:c.5769T>A ENSP00000262464.4:p.Phe1923Leu
ENST00000508053.5:c.5769T>A ENSP00000424571.1:p.Phe1923Leu
ENST00000619499.4:c.5766T>A ENSP00000482132.1:p.Phe1922Leu
NM_001999.3:c.5769T>A NP_001990.2:p.Phe1923Leu
XM_017009228.2:c.5616T>A XP_016864717.1:p.Phe1872Leu
NM_001999.4:c.5769T>A MANE Select NP_001990.2:p.Phe1923Leu