Canonical Allele Identifier: CA1581269588

Gene: FBN2

Linked Data

• dbSNP Id: rs1750810374
• gnomAD v4: 5-128335433-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335439_128335440del , CM000667.2:g.128335439_128335440del	GRCh38
NC_000005.9:g.127671131_127671132del , CM000667.1:g.127671131_127671132del	GRCh37
NC_000005.8:g.127699030_127699031del	NCBI36
NG_008750.1:g.207609_207610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.631+20_631+21del
ENST00000703785.1:n.712+20_712+21del
ENST00000262464.9:c.3847+20_3847+21del MANE Select	ENSP00000262464.4:n.3847+20_3847+21del
ENST00000262464.8:c.3847+20_3847+21del	ENSP00000262464.4:n.3847+20_3847+21del
ENST00000507835.5:c.397+20_397+21del	ENSP00000426839.1:n.397+20_397+21del
ENST00000508053.5:c.3847+20_3847+21del	ENSP00000424571.1:n.3847+20_3847+21del
ENST00000508989.5:c.3748+20_3748+21del	ENSP00000425596.1:n.3748+20_3748+21del
ENST00000619499.4:c.3844+20_3844+21del	ENSP00000482132.1:n.3844+20_3844+21del
NM_001999.3:c.3847+20_3847+21del	NP_001990.2:n.3847+20_3847+21del
XM_017009228.2:c.3694+20_3694+21del	XP_016864717.1:n.3694+20_3694+21del
NM_001999.4:c.3847+20_3847+21del MANE Select	NP_001990.2:n.3847+20_3847+21del