Canonical Allele Identifier: CA2675116609

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330542-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330543_128330544dup , CM000667.2:g.128330543_128330544dup	GRCh38
NC_000005.9:g.127666235_127666236dup , CM000667.1:g.127666235_127666236dup	GRCh37
NC_000005.8:g.127694134_127694135dup	NCBI36
NG_008750.1:g.212500_212501dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1129+29_1129+30dup
ENST00000703785.1:n.1210+29_1210+30dup
ENST00000262464.9:c.4345+29_4345+30dup MANE Select	ENSP00000262464.4:n.4345+29_4345+30dup
ENST00000262464.8:c.4345+29_4345+30dup	ENSP00000262464.4:n.4345+29_4345+30dup
ENST00000507835.5:c.895+29_895+30dup	ENSP00000426839.1:n.895+29_895+30dup
ENST00000508053.5:c.4345+29_4345+30dup	ENSP00000424571.1:n.4345+29_4345+30dup
ENST00000508989.5:c.4246+29_4246+30dup	ENSP00000425596.1:n.4246+29_4246+30dup
ENST00000619499.4:c.4342+29_4342+30dup	ENSP00000482132.1:n.4342+29_4342+30dup
NM_001999.3:c.4345+29_4345+30dup	NP_001990.2:n.4345+29_4345+30dup
XM_017009228.2:c.4192+29_4192+30dup	XP_016864717.1:n.4192+29_4192+30dup
NM_001999.4:c.4345+29_4345+30dup MANE Select	NP_001990.2:n.4345+29_4345+30dup