Canonical Allele Identifier: CA1581282251

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357282A= , CM000667.2:g.128357282A=	GRCh38
NC_000005.9:g.127692974A= , CM000667.1:g.127692974A=	GRCh37
NC_000005.8:g.127720873A=	NCBI36
NG_008750.1:g.185762T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2668T= MANE Select	ENSP00000262464.4:p.Cys890=
ENST00000262464.8:c.2668T=	ENSP00000262464.4:p.Cys890=
ENST00000508053.5:c.2668T=	ENSP00000424571.1:p.Cys890=
ENST00000508989.5:c.2569T=	ENSP00000425596.1:p.Cys857=
ENST00000619499.4:c.2665T=	ENSP00000482132.1:p.Cys889=
NM_001999.3:c.2668T=	NP_001990.2:p.Cys890=
XM_017009228.2:c.2515T=	XP_016864717.1:p.Cys839=
NM_001999.4:c.2668T= MANE Select	NP_001990.2:p.Cys890=