Canonical Allele Identifier: CA1581270680

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128337923_128337924delinsAG , CM000667.2:g.128337923_128337924delinsAG	GRCh38
NC_000005.9:g.127673615_127673616delinsAG , CM000667.1:g.127673615_127673616delinsAG	GRCh37
NC_000005.8:g.127701514_127701515delinsAG	NCBI36
NG_008750.1:g.205120_205121delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.382+73_382+74delinsCT
ENST00000703785.1:n.463+73_463+74delinsCT
ENST00000262464.9:c.3598+73_3598+74delinsCT MANE Select	ENSP00000262464.4:n.3598+73_3598+74delinsCT
ENST00000262464.8:c.3598+73_3598+74delinsCT	ENSP00000262464.4:n.3598+73_3598+74delinsCT
ENST00000507835.5:c.148+73_148+74delinsCT	ENSP00000426839.1:n.148+73_148+74delinsCT
ENST00000508053.5:c.3598+73_3598+74delinsCT	ENSP00000424571.1:n.3598+73_3598+74delinsCT
ENST00000508989.5:c.3499+73_3499+74delinsCT	ENSP00000425596.1:n.3499+73_3499+74delinsCT
ENST00000619499.4:c.3595+73_3595+74delinsCT	ENSP00000482132.1:n.3595+73_3595+74delinsCT
NM_001999.3:c.3598+73_3598+74delinsCT	NP_001990.2:n.3598+73_3598+74delinsCT
XM_017009228.2:c.3445+73_3445+74delinsCT	XP_016864717.1:n.3445+73_3445+74delinsCT
NM_001999.4:c.3598+73_3598+74delinsCT MANE Select	NP_001990.2:n.3598+73_3598+74delinsCT