Canonical Allele Identifier: CA1581282067

Gene: FBN2

Linked Data

• dbSNP Id: rs1751515283

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128356841_128356842insC , CM000667.2:g.128356841_128356842insC	GRCh38
NC_000005.9:g.127692533_127692534insC , CM000667.1:g.127692533_127692534insC	GRCh37
NC_000005.8:g.127720432_127720433insC	NCBI36
NG_008750.1:g.186202_186203insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+434_2674+435insG MANE Select	ENSP00000262464.4:n.2674+434_2674+435insG
ENST00000262464.8:c.2674+434_2674+435insG	ENSP00000262464.4:n.2674+434_2674+435insG
ENST00000508053.5:c.2674+434_2674+435insG	ENSP00000424571.1:n.2674+434_2674+435insG
ENST00000508989.5:c.2575+434_2575+435insG	ENSP00000425596.1:n.2575+434_2575+435insG
ENST00000619499.4:c.2671+434_2671+435insG	ENSP00000482132.1:n.2671+434_2671+435insG
NM_001999.3:c.2674+434_2674+435insG	NP_001990.2:n.2674+434_2674+435insG
XM_017009228.2:c.2521+434_2521+435insG	XP_016864717.1:n.2521+434_2521+435insG
NM_001999.4:c.2674+434_2674+435insG MANE Select	NP_001990.2:n.2674+434_2674+435insG