Canonical Allele Identifier: CA2578395886

Gene: FBN2

Linked Data

• gnomAD v4: 5-128300744-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300744_128300745insC , CM000667.2:g.128300744_128300745insC	GRCh38
NC_000005.9:g.127636436_127636437insC , CM000667.1:g.127636436_127636437insC	GRCh37
NC_000005.8:g.127664335_127664336insC	NCBI36
NG_008750.1:g.242299_242300insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+72_2950+73insG
ENST00000703785.1:n.2869+72_2869+73insG
ENST00000262464.9:c.6166+72_6166+73insG MANE Select	ENSP00000262464.4:n.6166+72_6166+73insG
ENST00000262464.8:c.6166+72_6166+73insG	ENSP00000262464.4:n.6166+72_6166+73insG
ENST00000508053.5:c.6166+72_6166+73insG	ENSP00000424571.1:n.6166+72_6166+73insG
ENST00000619499.4:c.6163+72_6163+73insG	ENSP00000482132.1:n.6163+72_6163+73insG
NM_001999.3:c.6166+72_6166+73insG	NP_001990.2:n.6166+72_6166+73insG
XM_017009228.2:c.6013+72_6013+73insG	XP_016864717.1:n.6013+72_6013+73insG
NM_001999.4:c.6166+72_6166+73insG MANE Select	NP_001990.2:n.6166+72_6166+73insG