Canonical Allele Identifier: CA2675117078

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335321-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335322del , CM000667.2:g.128335322del	GRCh38
NC_000005.9:g.127671014del , CM000667.1:g.127671014del	GRCh37
NC_000005.8:g.127698913del	NCBI36
NG_008750.1:g.207722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.632-27del
ENST00000703785.1:n.713-27del
ENST00000262464.9:c.3848-27del MANE Select	ENSP00000262464.4:n.3848-27del
ENST00000262464.8:c.3848-27del	ENSP00000262464.4:n.3848-27del
ENST00000507835.5:c.398-27del	ENSP00000426839.1:n.398-27del
ENST00000508053.5:c.3848-27del	ENSP00000424571.1:n.3848-27del
ENST00000508989.5:c.3749-27del	ENSP00000425596.1:n.3749-27del
ENST00000619499.4:c.3845-27del	ENSP00000482132.1:n.3845-27del
NM_001999.3:c.3848-27del	NP_001990.2:n.3848-27del
XM_017009228.2:c.3695-27del	XP_016864717.1:n.3695-27del
NM_001999.4:c.3848-27del MANE Select	NP_001990.2:n.3848-27del