Canonical Allele Identifier: CA1581255406

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305031_128305036delinsACACAC , CM000667.2:g.128305031_128305036delinsACACAC	GRCh38
NC_000005.9:g.127640723_127640728delinsACACAC , CM000667.1:g.127640723_127640728delinsACACAC	GRCh37
NC_000005.8:g.127668622_127668627delinsACACAC	NCBI36
NG_008750.1:g.238008_238013delinsGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2505_2510delinsGTGTGT
ENST00000703785.1:n.2424_2429delinsGTGTGT
ENST00000262464.9:c.5721_5726delinsGTGTGT MANE Select	ENSP00000262464.4:p.Leu1907=
ENST00000262464.8:c.5721_5726delinsGTGTGT	ENSP00000262464.4:p.Leu1907=
ENST00000508053.5:c.5721_5726delinsGTGTGT	ENSP00000424571.1:p.Leu1907=
ENST00000619499.4:c.5718_5723delinsGTGTGT	ENSP00000482132.1:p.Leu1906=
NM_001999.3:c.5721_5726delinsGTGTGT	NP_001990.2:p.Leu1907=
XM_017009228.2:c.5568_5573delinsGTGTGT	XP_016864717.1:p.Leu1856=
NM_001999.4:c.5721_5726delinsGTGTGT MANE Select	NP_001990.2:p.Leu1907=