Canonical Allele Identifier: CA2832543969

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393172dup , CM000667.2:g.128393172dup	GRCh38
NC_000005.9:g.127728865dup , CM000667.1:g.127728865dup	GRCh37
NC_000005.8:g.127756764dup	NCBI36
NG_008750.1:g.149875dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1139dup
ENST00000262464.9:c.1432dup MANE Select	ENSP00000262464.4:p.Ala478GlyfsTer22
ENST00000262464.8:c.1432dup	ENSP00000262464.4:p.Ala478GlyfsTer22
ENST00000508053.5:c.1432dup	ENSP00000424571.1:p.Ala478GlyfsTer22
ENST00000508989.5:c.1333dup	ENSP00000425596.1:p.Ala445GlyfsTer22
ENST00000619499.4:c.1429dup	ENSP00000482132.1:p.Ala477GlyfsTer22
NM_001999.3:c.1432dup	NP_001990.2:p.Ala478GlyfsTer22
XM_017009228.2:c.1279dup	XP_016864717.1:p.Ala427GlyfsTer22
NM_001999.4:c.1432dup MANE Select	NP_001990.2:p.Ala478GlyfsTer22