Canonical Allele Identifier: CA1581282186

Gene: FBN2

Linked Data

• dbSNP Id: rs1751520772
• gnomAD v4: 5-128357124-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357125_128357126del , CM000667.2:g.128357125_128357126del	GRCh38
NC_000005.9:g.127692817_127692818del , CM000667.1:g.127692817_127692818del	GRCh37
NC_000005.8:g.127720716_127720717del	NCBI36
NG_008750.1:g.185918_185919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+150_2674+151del MANE Select	ENSP00000262464.4:n.2674+150_2674+151del
ENST00000262464.8:c.2674+150_2674+151del	ENSP00000262464.4:n.2674+150_2674+151del
ENST00000508053.5:c.2674+150_2674+151del	ENSP00000424571.1:n.2674+150_2674+151del
ENST00000508989.5:c.2575+150_2575+151del	ENSP00000425596.1:n.2575+150_2575+151del
ENST00000619499.4:c.2671+150_2671+151del	ENSP00000482132.1:n.2671+150_2671+151del
NM_001999.3:c.2674+150_2674+151del	NP_001990.2:n.2674+150_2674+151del
XM_017009228.2:c.2521+150_2521+151del	XP_016864717.1:n.2521+150_2521+151del
NM_001999.4:c.2674+150_2674+151del MANE Select	NP_001990.2:n.2674+150_2674+151del