Canonical Allele Identifier: CA1581269636

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335566A= , CM000667.2:g.128335566A=	GRCh38
NC_000005.9:g.127671258A= , CM000667.1:g.127671258A=	GRCh37
NC_000005.8:g.127699157A=	NCBI36
NG_008750.1:g.207478T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.520T=
ENST00000703785.1:n.601T=
ENST00000262464.9:c.3736T= MANE Select	ENSP00000262464.4:p.Cys1246=
ENST00000262464.8:c.3736T=	ENSP00000262464.4:p.Cys1246=
ENST00000507835.5:c.286T=	ENSP00000426839.1:p.Cys96=
ENST00000508053.5:c.3736T=	ENSP00000424571.1:p.Cys1246=
ENST00000508989.5:c.3637T=	ENSP00000425596.1:p.Cys1213=
ENST00000619499.4:c.3733T=	ENSP00000482132.1:p.Cys1245=
NM_001999.3:c.3736T=	NP_001990.2:p.Cys1246=
XM_017009228.2:c.3583T=	XP_016864717.1:p.Cys1195=
NM_001999.4:c.3736T= MANE Select	NP_001990.2:p.Cys1246=