Canonical Allele Identifier: CA1581253436

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300787_128300788delinsAG , CM000667.2:g.128300787_128300788delinsAG	GRCh38
NC_000005.9:g.127636479_127636480delinsAG , CM000667.1:g.127636479_127636480delinsAG	GRCh37
NC_000005.8:g.127664378_127664379delinsAG	NCBI36
NG_008750.1:g.242256_242257delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+29_2950+30delinsCT
ENST00000703785.1:n.2869+29_2869+30delinsCT
ENST00000262464.9:c.6166+29_6166+30delinsCT MANE Select	ENSP00000262464.4:n.6166+29_6166+30delinsCT
ENST00000262464.8:c.6166+29_6166+30delinsCT	ENSP00000262464.4:n.6166+29_6166+30delinsCT
ENST00000508053.5:c.6166+29_6166+30delinsCT	ENSP00000424571.1:n.6166+29_6166+30delinsCT
ENST00000619499.4:c.6163+29_6163+30delinsCT	ENSP00000482132.1:n.6163+29_6163+30delinsCT
NM_001999.3:c.6166+29_6166+30delinsCT	NP_001990.2:n.6166+29_6166+30delinsCT
XM_017009228.2:c.6013+29_6013+30delinsCT	XP_016864717.1:n.6013+29_6013+30delinsCT
NM_001999.4:c.6166+29_6166+30delinsCT MANE Select	NP_001990.2:n.6166+29_6166+30delinsCT