Canonical Allele Identifier: CA1581270756

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338105G= , CM000667.2:g.128338105G=	GRCh38
NC_000005.9:g.127673797G= , CM000667.1:g.127673797G=	GRCh37
NC_000005.8:g.127701696G=	NCBI36
NG_008750.1:g.204939C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.274C=
ENST00000703785.1:n.355C=
ENST00000262464.9:c.3490C= MANE Select	ENSP00000262464.4:p.Arg1164=
ENST00000262464.8:c.3490C=	ENSP00000262464.4:p.Arg1164=
ENST00000507835.5:c.40C=	ENSP00000426839.1:p.Arg14=
ENST00000508053.5:c.3490C=	ENSP00000424571.1:p.Arg1164=
ENST00000508989.5:c.3391C=	ENSP00000425596.1:p.Arg1131=
ENST00000619499.4:c.3487C=	ENSP00000482132.1:p.Arg1163=
NM_001999.3:c.3490C=	NP_001990.2:p.Arg1164=
XM_017009228.2:c.3337C=	XP_016864717.1:p.Arg1113=
NM_001999.4:c.3490C= MANE Select	NP_001990.2:p.Arg1164=