Canonical Allele Identifier: CA2675117243

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335885-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335888del , CM000667.2:g.128335888del	GRCh38
NC_000005.9:g.127671580del , CM000667.1:g.127671580del	GRCh37
NC_000005.8:g.127699479del	NCBI36
NG_008750.1:g.207158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.508+102del
ENST00000703785.1:n.589+102del
ENST00000262464.9:c.3724+102del MANE Select	ENSP00000262464.4:n.3724+102del
ENST00000262464.8:c.3724+102del	ENSP00000262464.4:n.3724+102del
ENST00000507835.5:c.274+102del	ENSP00000426839.1:n.274+102del
ENST00000508053.5:c.3724+102del	ENSP00000424571.1:n.3724+102del
ENST00000508989.5:c.3625+102del	ENSP00000425596.1:n.3625+102del
ENST00000619499.4:c.3721+102del	ENSP00000482132.1:n.3721+102del
NM_001999.3:c.3724+102del	NP_001990.2:n.3724+102del
XM_017009228.2:c.3571+102del	XP_016864717.1:n.3571+102del
NM_001999.4:c.3724+102del MANE Select	NP_001990.2:n.3724+102del