Canonical Allele Identifier: CA1581253318

Gene: FBN2

Linked Data

• dbSNP Id: rs1749683662

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300532_128300535del , CM000667.2:g.128300532_128300535del	GRCh38
NC_000005.9:g.127636224_127636227del , CM000667.1:g.127636224_127636227del	GRCh37
NC_000005.8:g.127664123_127664126del	NCBI36
NG_008750.1:g.242510_242513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+283_2950+286del
ENST00000703785.1:n.2869+283_2869+286del
ENST00000262464.9:c.6166+283_6166+286del MANE Select	ENSP00000262464.4:n.6166+283_6166+286del
ENST00000262464.8:c.6166+283_6166+286del	ENSP00000262464.4:n.6166+283_6166+286del
ENST00000508053.5:c.6166+283_6166+286del	ENSP00000424571.1:n.6166+283_6166+286del
ENST00000619499.4:c.6163+283_6163+286del	ENSP00000482132.1:n.6163+283_6163+286del
NM_001999.3:c.6166+283_6166+286del	NP_001990.2:n.6166+283_6166+286del
XM_017009228.2:c.6013+283_6013+286del	XP_016864717.1:n.6013+283_6013+286del
NM_001999.4:c.6166+283_6166+286del MANE Select	NP_001990.2:n.6166+283_6166+286del