Canonical Allele Identifier: CA1581282204

Gene: FBN2

Linked Data

• dbSNP Id: rs1751521802
• gnomAD v4: 5-128357147-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357151_128357153del , CM000667.2:g.128357151_128357153del	GRCh38
NC_000005.9:g.127692843_127692845del , CM000667.1:g.127692843_127692845del	GRCh37
NC_000005.8:g.127720742_127720744del	NCBI36
NG_008750.1:g.185894_185896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+126_2674+128del MANE Select	ENSP00000262464.4:n.2674+126_2674+128del
ENST00000262464.8:c.2674+126_2674+128del	ENSP00000262464.4:n.2674+126_2674+128del
ENST00000508053.5:c.2674+126_2674+128del	ENSP00000424571.1:n.2674+126_2674+128del
ENST00000508989.5:c.2575+126_2575+128del	ENSP00000425596.1:n.2575+126_2575+128del
ENST00000619499.4:c.2671+126_2671+128del	ENSP00000482132.1:n.2671+126_2671+128del
NM_001999.3:c.2674+126_2674+128del	NP_001990.2:n.2674+126_2674+128del
XM_017009228.2:c.2521+126_2521+128del	XP_016864717.1:n.2521+126_2521+128del
NM_001999.4:c.2674+126_2674+128del MANE Select	NP_001990.2:n.2674+126_2674+128del