Canonical Allele Identifier: CA1581282286

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357385T= , CM000667.2:g.128357385T=	GRCh38
NC_000005.9:g.127693077T= , CM000667.1:g.127693077T=	GRCh37
NC_000005.8:g.127720976T=	NCBI36
NG_008750.1:g.185659A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2565A= MANE Select	ENSP00000262464.4:p.Glu855=
ENST00000262464.8:c.2565A=	ENSP00000262464.4:p.Glu855=
ENST00000508053.5:c.2565A=	ENSP00000424571.1:p.Glu855=
ENST00000508989.5:c.2466A=	ENSP00000425596.1:p.Glu822=
ENST00000619499.4:c.2562A=	ENSP00000482132.1:p.Glu854=
NM_001999.3:c.2565A=	NP_001990.2:p.Glu855=
XM_017009228.2:c.2412A=	XP_016864717.1:p.Glu804=
NM_001999.4:c.2565A= MANE Select	NP_001990.2:p.Glu855=