Canonical Allele Identifier: CA1581268414

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333016A= , CM000667.2:g.128333016A=	GRCh38
NC_000005.9:g.127668708A= , CM000667.1:g.127668708A=	GRCh37
NC_000005.8:g.127696607A=	NCBI36
NG_008750.1:g.210028T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.902T=
ENST00000703785.1:n.983T=
ENST00000262464.9:c.4118T= MANE Select	ENSP00000262464.4:p.Ile1373=
ENST00000262464.8:c.4118T=	ENSP00000262464.4:p.Ile1373=
ENST00000507835.5:c.668T=	ENSP00000426839.1:p.Ile223=
ENST00000508053.5:c.4118T=	ENSP00000424571.1:p.Ile1373=
ENST00000508989.5:c.4019T=	ENSP00000425596.1:p.Ile1340=
ENST00000619499.4:c.4115T=	ENSP00000482132.1:p.Ile1372=
NM_001999.3:c.4118T=	NP_001990.2:p.Ile1373=
XM_017009228.2:c.3965T=	XP_016864717.1:p.Ile1322=
NM_001999.4:c.4118T= MANE Select	NP_001990.2:p.Ile1373=