Canonical Allele Identifier: CA2578396472

Gene: FBN2

Linked Data

• gnomAD v4: 5-128357191-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357193_128357194del , CM000667.2:g.128357193_128357194del	GRCh38
NC_000005.9:g.127692885_127692886del , CM000667.1:g.127692885_127692886del	GRCh37
NC_000005.8:g.127720784_127720785del	NCBI36
NG_008750.1:g.185851_185852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+83_2674+84del MANE Select	ENSP00000262464.4:n.2674+83_2674+84del
ENST00000262464.8:c.2674+83_2674+84del	ENSP00000262464.4:n.2674+83_2674+84del
ENST00000508053.5:c.2674+83_2674+84del	ENSP00000424571.1:n.2674+83_2674+84del
ENST00000508989.5:c.2575+83_2575+84del	ENSP00000425596.1:n.2575+83_2575+84del
ENST00000619499.4:c.2671+83_2671+84del	ENSP00000482132.1:n.2671+83_2671+84del
NM_001999.3:c.2674+83_2674+84del	NP_001990.2:n.2674+83_2674+84del
XM_017009228.2:c.2521+83_2521+84del	XP_016864717.1:n.2521+83_2521+84del
NM_001999.4:c.2674+83_2674+84del MANE Select	NP_001990.2:n.2674+83_2674+84del