Canonical Allele Identifier: CA2675118746

Gene: FBN2

Linked Data

• gnomAD v4: 5-128357221-TCTGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357224_128357228del , CM000667.2:g.128357224_128357228del	GRCh38
NC_000005.9:g.127692916_127692920del , CM000667.1:g.127692916_127692920del	GRCh37
NC_000005.8:g.127720815_127720819del	NCBI36
NG_008750.1:g.185818_185822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+50_2674+54del MANE Select	ENSP00000262464.4:n.2674+50_2674+54del
ENST00000262464.8:c.2674+50_2674+54del	ENSP00000262464.4:n.2674+50_2674+54del
ENST00000508053.5:c.2674+50_2674+54del	ENSP00000424571.1:n.2674+50_2674+54del
ENST00000508989.5:c.2575+50_2575+54del	ENSP00000425596.1:n.2575+50_2575+54del
ENST00000619499.4:c.2671+50_2671+54del	ENSP00000482132.1:n.2671+50_2671+54del
NM_001999.3:c.2674+50_2674+54del	NP_001990.2:n.2674+50_2674+54del
XM_017009228.2:c.2521+50_2521+54del	XP_016864717.1:n.2521+50_2521+54del
NM_001999.4:c.2674+50_2674+54del MANE Select	NP_001990.2:n.2674+50_2674+54del