Canonical Allele Identifier: CA1581269593

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335450T= , CM000667.2:g.128335450T=	GRCh38
NC_000005.9:g.127671142T= , CM000667.1:g.127671142T=	GRCh37
NC_000005.8:g.127699041T=	NCBI36
NG_008750.1:g.207594A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+5A=
ENST00000703785.1:n.712+5A=
ENST00000262464.9:c.3847+5A= MANE Select	ENSP00000262464.4:n.3847+5A=
ENST00000262464.8:c.3847+5A=	ENSP00000262464.4:n.3847+5A=
ENST00000507835.5:c.397+5A=	ENSP00000426839.1:n.397+5A=
ENST00000508053.5:c.3847+5A=	ENSP00000424571.1:n.3847+5A=
ENST00000508989.5:c.3748+5A=	ENSP00000425596.1:n.3748+5A=
ENST00000619499.4:c.3844+5A=	ENSP00000482132.1:n.3844+5A=
NM_001999.3:c.3847+5A=	NP_001990.2:n.3847+5A=
XM_017009228.2:c.3694+5A=	XP_016864717.1:n.3694+5A=
NM_001999.4:c.3847+5A= MANE Select	NP_001990.2:n.3847+5A=