Canonical Allele Identifier: CA1581267348

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330612A= , CM000667.2:g.128330612A=	GRCh38
NC_000005.9:g.127666304A= , CM000667.1:g.127666304A=	GRCh37
NC_000005.8:g.127694203A=	NCBI36
NG_008750.1:g.212432T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1090T=
ENST00000703785.1:n.1171T=
ENST00000262464.9:c.4306T= MANE Select	ENSP00000262464.4:p.Cys1436=
ENST00000262464.8:c.4306T=	ENSP00000262464.4:p.Cys1436=
ENST00000507835.5:c.856T=	ENSP00000426839.1:p.Cys286=
ENST00000508053.5:c.4306T=	ENSP00000424571.1:p.Cys1436=
ENST00000508989.5:c.4207T=	ENSP00000425596.1:p.Cys1403=
ENST00000619499.4:c.4303T=	ENSP00000482132.1:p.Cys1435=
NM_001999.3:c.4306T=	NP_001990.2:p.Cys1436=
XM_017009228.2:c.4153T=	XP_016864717.1:p.Cys1385=
NM_001999.4:c.4306T= MANE Select	NP_001990.2:p.Cys1436=