Canonical Allele Identifier: CA1581269472

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335172A= , CM000667.2:g.128335172A=	GRCh38
NC_000005.9:g.127670864A= , CM000667.1:g.127670864A=	GRCh37
NC_000005.8:g.127698763A=	NCBI36
NG_008750.1:g.207872T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.755T=
ENST00000703785.1:n.836T=
ENST00000262464.9:c.3971T= MANE Select	ENSP00000262464.4:p.Ile1324=
ENST00000262464.8:c.3971T=	ENSP00000262464.4:p.Ile1324=
ENST00000507835.5:c.521T=	ENSP00000426839.1:p.Ile174=
ENST00000508053.5:c.3971T=	ENSP00000424571.1:p.Ile1324=
ENST00000508989.5:c.3872T=	ENSP00000425596.1:p.Ile1291=
ENST00000619499.4:c.3968T=	ENSP00000482132.1:p.Ile1323=
NM_001999.3:c.3971T=	NP_001990.2:p.Ile1324=
XM_017009228.2:c.3818T=	XP_016864717.1:p.Ile1273=
NM_001999.4:c.3971T= MANE Select	NP_001990.2:p.Ile1324=