Canonical Allele Identifier: CA2580072613

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393288del , CM000667.2:g.128393288del	GRCh38
NC_000005.9:g.127728981del , CM000667.1:g.127728981del	GRCh37
NC_000005.8:g.127756880del	NCBI36
NG_008750.1:g.149759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1023del
ENST00000262464.9:c.1316del MANE Select	ENSP00000262464.4:p.Gly439GlufsTer?
ENST00000262464.8:c.1316del	ENSP00000262464.4:p.Gly439GlufsTer?
ENST00000508053.5:c.1316del	ENSP00000424571.1:p.Gly439GlufsTer?
ENST00000508989.5:c.1217del	ENSP00000425596.1:p.Gly406GlufsTer?
ENST00000619499.4:c.1313del	ENSP00000482132.1:p.Gly438GlufsTer?
NM_001999.3:c.1316del	NP_001990.2:p.Gly439GlufsTer?
XM_017009228.2:c.1163del	XP_016864717.1:p.Gly388GlufsTer?
NM_001999.4:c.1316del MANE Select	NP_001990.2:p.Gly439GlufsTer?