Canonical Allele Identifier: CA1581253313

Gene: FBN2

Linked Data

• dbSNP Id: rs1749683479

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300525_128300526del , CM000667.2:g.128300525_128300526del	GRCh38
NC_000005.9:g.127636217_127636218del , CM000667.1:g.127636217_127636218del	GRCh37
NC_000005.8:g.127664116_127664117del	NCBI36
NG_008750.1:g.242520_242521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+293_2950+294del
ENST00000703785.1:n.2869+293_2869+294del
ENST00000262464.9:c.6166+293_6166+294del MANE Select	ENSP00000262464.4:n.6166+293_6166+294del
ENST00000262464.8:c.6166+293_6166+294del	ENSP00000262464.4:n.6166+293_6166+294del
ENST00000508053.5:c.6166+293_6166+294del	ENSP00000424571.1:n.6166+293_6166+294del
ENST00000619499.4:c.6163+293_6163+294del	ENSP00000482132.1:n.6163+293_6163+294del
NM_001999.3:c.6166+293_6166+294del	NP_001990.2:n.6166+293_6166+294del
XM_017009228.2:c.6013+293_6013+294del	XP_016864717.1:n.6013+293_6013+294del
NM_001999.4:c.6166+293_6166+294del MANE Select	NP_001990.2:n.6166+293_6166+294del