Canonical Allele Identifier: CA360739895
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304999G>A , CM000667.2:g.128304999G>A GRCh38
NC_000005.9:g.127640691G>A , CM000667.1:g.127640691G>A GRCh37
NC_000005.8:g.127668590G>A NCBI36
NG_008750.1:g.238045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2542C>T
ENST00000703785.1:n.2461C>T
ENST00000262464.9:c.5758C>T MANE Select ENSP00000262464.4:p.His1920Tyr
ENST00000262464.8:c.5758C>T ENSP00000262464.4:p.His1920Tyr
ENST00000508053.5:c.5758C>T ENSP00000424571.1:p.His1920Tyr
ENST00000619499.4:c.5755C>T ENSP00000482132.1:p.His1919Tyr
NM_001999.3:c.5758C>T NP_001990.2:p.His1920Tyr
XM_017009228.2:c.5605C>T XP_016864717.1:p.His1869Tyr
NM_001999.4:c.5758C>T MANE Select NP_001990.2:p.His1920Tyr