Canonical Allele Identifier: CA1581282289

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357393T= , CM000667.2:g.128357393T=	GRCh38
NC_000005.9:g.127693085T= , CM000667.1:g.127693085T=	GRCh37
NC_000005.8:g.127720984T=	NCBI36
NG_008750.1:g.185651A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2557A= MANE Select	ENSP00000262464.4:p.Ile853=
ENST00000262464.8:c.2557A=	ENSP00000262464.4:p.Ile853=
ENST00000508053.5:c.2557A=	ENSP00000424571.1:p.Ile853=
ENST00000508989.5:c.2458A=	ENSP00000425596.1:p.Ile820=
ENST00000619499.4:c.2554A=	ENSP00000482132.1:p.Ile852=
NM_001999.3:c.2557A=	NP_001990.2:p.Ile853=
XM_017009228.2:c.2404A=	XP_016864717.1:p.Ile802=
NM_001999.4:c.2557A= MANE Select	NP_001990.2:p.Ile853=