Canonical Allele Identifier: CA2675117112

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335411-AAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335413_128335416del , CM000667.2:g.128335413_128335416del	GRCh38
NC_000005.9:g.127671105_127671108del , CM000667.1:g.127671105_127671108del	GRCh37
NC_000005.8:g.127699004_127699007del	NCBI36
NG_008750.1:g.207629_207632del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+40_631+43del
ENST00000703785.1:n.712+40_712+43del
ENST00000262464.9:c.3847+40_3847+43del MANE Select	ENSP00000262464.4:n.3847+40_3847+43del
ENST00000262464.8:c.3847+40_3847+43del	ENSP00000262464.4:n.3847+40_3847+43del
ENST00000507835.5:c.397+40_397+43del	ENSP00000426839.1:n.397+40_397+43del
ENST00000508053.5:c.3847+40_3847+43del	ENSP00000424571.1:n.3847+40_3847+43del
ENST00000508989.5:c.3748+40_3748+43del	ENSP00000425596.1:n.3748+40_3748+43del
ENST00000619499.4:c.3844+40_3844+43del	ENSP00000482132.1:n.3844+40_3844+43del
NM_001999.3:c.3847+40_3847+43del	NP_001990.2:n.3847+40_3847+43del
XM_017009228.2:c.3694+40_3694+43del	XP_016864717.1:n.3694+40_3694+43del
NM_001999.4:c.3847+40_3847+43del MANE Select	NP_001990.2:n.3847+40_3847+43del