Canonical Allele Identifier: CA1581268402

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332987A= , CM000667.2:g.128332987A=	GRCh38
NC_000005.9:g.127668679A= , CM000667.1:g.127668679A=	GRCh37
NC_000005.8:g.127696578A=	NCBI36
NG_008750.1:g.210057T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.931T=
ENST00000703785.1:n.1012T=
ENST00000262464.9:c.4147T= MANE Select	ENSP00000262464.4:p.Ser1383=
ENST00000262464.8:c.4147T=	ENSP00000262464.4:p.Ser1383=
ENST00000507835.5:c.697T=	ENSP00000426839.1:p.Ser233=
ENST00000508053.5:c.4147T=	ENSP00000424571.1:p.Ser1383=
ENST00000508989.5:c.4048T=	ENSP00000425596.1:p.Ser1350=
ENST00000619499.4:c.4144T=	ENSP00000482132.1:p.Ser1382=
NM_001999.3:c.4147T=	NP_001990.2:p.Ser1383=
XM_017009228.2:c.3994T=	XP_016864717.1:p.Ser1332=
NM_001999.4:c.4147T= MANE Select	NP_001990.2:p.Ser1383=