Canonical Allele Identifier: CA2768335072

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300783_128300784insC , CM000667.2:g.128300783_128300784insC	GRCh38
NC_000005.9:g.127636475_127636476insC , CM000667.1:g.127636475_127636476insC	GRCh37
NC_000005.8:g.127664374_127664375insC	NCBI36
NG_008750.1:g.242260_242261insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+33_2950+34insG
ENST00000703785.1:n.2869+33_2869+34insG
ENST00000262464.9:c.6166+33_6166+34insG MANE Select	ENSP00000262464.4:n.6166+33_6166+34insG
ENST00000262464.8:c.6166+33_6166+34insG	ENSP00000262464.4:n.6166+33_6166+34insG
ENST00000508053.5:c.6166+33_6166+34insG	ENSP00000424571.1:n.6166+33_6166+34insG
ENST00000619499.4:c.6163+33_6163+34insG	ENSP00000482132.1:n.6163+33_6163+34insG
NM_001999.3:c.6166+33_6166+34insG	NP_001990.2:n.6166+33_6166+34insG
XM_017009228.2:c.6013+33_6013+34insG	XP_016864717.1:n.6013+33_6013+34insG
NM_001999.4:c.6166+33_6166+34insG MANE Select	NP_001990.2:n.6166+33_6166+34insG