Canonical Allele Identifier: CA1581271185

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338980C= , CM000667.2:g.128338980C=	GRCh38
NC_000005.9:g.127674672C= , CM000667.1:g.127674672C=	GRCh37
NC_000005.8:g.127702571C=	NCBI36
NG_008750.1:g.204064G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.209G=
ENST00000703785.1:n.290G=
ENST00000262464.9:c.3425G= MANE Select	ENSP00000262464.4:p.Cys1142=
ENST00000262464.8:c.3425G=	ENSP00000262464.4:p.Cys1142=
ENST00000507835.5:c.-26G=	ENSP00000426839.1:n.-26G=
ENST00000508053.5:c.3425G=	ENSP00000424571.1:p.Cys1142=
ENST00000508989.5:c.3326G=	ENSP00000425596.1:p.Cys1109=
ENST00000619499.4:c.3422G=	ENSP00000482132.1:p.Cys1141=
NM_001999.3:c.3425G=	NP_001990.2:p.Cys1142=
XM_017009228.2:c.3272G=	XP_016864717.1:p.Cys1091=
NM_001999.4:c.3425G= MANE Select	NP_001990.2:p.Cys1142=