Canonical Allele Identifier: CA360750319
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395133A>T , CM000667.2:g.128395133A>T GRCh38
NC_000005.9:g.127730826A>T , CM000667.1:g.127730826A>T GRCh37
NC_000005.8:g.127758725A>T NCBI36
NG_008750.1:g.147910T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.927T>A
ENST00000262464.9:c.1220T>A MANE Select ENSP00000262464.4:p.Val407Asp
ENST00000262464.8:c.1220T>A ENSP00000262464.4:p.Val407Asp
ENST00000508053.5:c.1220T>A ENSP00000424571.1:p.Val407Asp
ENST00000508989.5:c.1121T>A ENSP00000425596.1:p.Val374Asp
ENST00000619499.4:c.1217T>A ENSP00000482132.1:p.Val406Asp
NM_001999.3:c.1220T>A NP_001990.2:p.Val407Asp
XM_017009228.2:c.1079-1765T>A XP_016864717.1:n.1079-1765T>A
NM_001999.4:c.1220T>A MANE Select NP_001990.2:p.Val407Asp