Canonical Allele Identifier: CA1581253317

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300530_128300534delinsAATTC , CM000667.2:g.128300530_128300534delinsAATTC	GRCh38
NC_000005.9:g.127636222_127636226delinsAATTC , CM000667.1:g.127636222_127636226delinsAATTC	GRCh37
NC_000005.8:g.127664121_127664125delinsAATTC	NCBI36
NG_008750.1:g.242510_242514delinsGAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+283_2950+287delinsGAATT
ENST00000703785.1:n.2869+283_2869+287delinsGAATT
ENST00000262464.9:c.6166+283_6166+287delinsGAATT MANE Select	ENSP00000262464.4:n.6166+283_6166+287delinsGAATT
ENST00000262464.8:c.6166+283_6166+287delinsGAATT	ENSP00000262464.4:n.6166+283_6166+287delinsGAATT
ENST00000508053.5:c.6166+283_6166+287delinsGAATT	ENSP00000424571.1:n.6166+283_6166+287delinsGAATT
ENST00000619499.4:c.6163+283_6163+287delinsGAATT	ENSP00000482132.1:n.6163+283_6163+287delinsGAATT
NM_001999.3:c.6166+283_6166+287delinsGAATT	NP_001990.2:n.6166+283_6166+287delinsGAATT
XM_017009228.2:c.6013+283_6013+287delinsGAATT	XP_016864717.1:n.6013+283_6013+287delinsGAATT
NM_001999.4:c.6166+283_6166+287delinsGAATT MANE Select	NP_001990.2:n.6166+283_6166+287delinsGAATT