Canonical Allele Identifier: CA2675114518

Gene: FBN2

Linked Data

• gnomAD v4: 5-128305084-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305087_128305088del , CM000667.2:g.128305087_128305088del	GRCh38
NC_000005.9:g.127640779_127640780del , CM000667.1:g.127640779_127640780del	GRCh37
NC_000005.8:g.127668678_127668679del	NCBI36
NG_008750.1:g.237958_237959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2459-4_2459-3del
ENST00000703785.1:n.2378-4_2378-3del
ENST00000262464.9:c.5675-4_5675-3del MANE Select	ENSP00000262464.4:n.5675-4_5675-3del
ENST00000262464.8:c.5675-4_5675-3del	ENSP00000262464.4:n.5675-4_5675-3del
ENST00000508053.5:c.5675-4_5675-3del	ENSP00000424571.1:n.5675-4_5675-3del
ENST00000619499.4:c.5672-4_5672-3del	ENSP00000482132.1:n.5672-4_5672-3del
NM_001999.3:c.5675-4_5675-3del	NP_001990.2:n.5675-4_5675-3del
XM_017009228.2:c.5522-4_5522-3del	XP_016864717.1:n.5522-4_5522-3del
NM_001999.4:c.5675-4_5675-3del MANE Select	NP_001990.2:n.5675-4_5675-3del