Canonical Allele Identifier: CA1581269577

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335413_128335417delinsATTAG , CM000667.2:g.128335413_128335417delinsATTAG	GRCh38
NC_000005.9:g.127671105_127671109delinsATTAG , CM000667.1:g.127671105_127671109delinsATTAG	GRCh37
NC_000005.8:g.127699004_127699008delinsATTAG	NCBI36
NG_008750.1:g.207627_207631delinsCTAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+38_631+42delinsCTAAT
ENST00000703785.1:n.712+38_712+42delinsCTAAT
ENST00000262464.9:c.3847+38_3847+42delinsCTAAT MANE Select	ENSP00000262464.4:n.3847+38_3847+42delinsCTAAT
ENST00000262464.8:c.3847+38_3847+42delinsCTAAT	ENSP00000262464.4:n.3847+38_3847+42delinsCTAAT
ENST00000507835.5:c.397+38_397+42delinsCTAAT	ENSP00000426839.1:n.397+38_397+42delinsCTAAT
ENST00000508053.5:c.3847+38_3847+42delinsCTAAT	ENSP00000424571.1:n.3847+38_3847+42delinsCTAAT
ENST00000508989.5:c.3748+38_3748+42delinsCTAAT	ENSP00000425596.1:n.3748+38_3748+42delinsCTAAT
ENST00000619499.4:c.3844+38_3844+42delinsCTAAT	ENSP00000482132.1:n.3844+38_3844+42delinsCTAAT
NM_001999.3:c.3847+38_3847+42delinsCTAAT	NP_001990.2:n.3847+38_3847+42delinsCTAAT
XM_017009228.2:c.3694+38_3694+42delinsCTAAT	XP_016864717.1:n.3694+38_3694+42delinsCTAAT
NM_001999.4:c.3847+38_3847+42delinsCTAAT MANE Select	NP_001990.2:n.3847+38_3847+42delinsCTAAT