Canonical Allele Identifier: CA1581271187

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338985G= , CM000667.2:g.128338985G=	GRCh38
NC_000005.9:g.127674677G= , CM000667.1:g.127674677G=	GRCh37
NC_000005.8:g.127702576G=	NCBI36
NG_008750.1:g.204059C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.204C=
ENST00000703785.1:n.285C=
ENST00000262464.9:c.3420C= MANE Select	ENSP00000262464.4:p.Cys1140=
ENST00000262464.8:c.3420C=	ENSP00000262464.4:p.Cys1140=
ENST00000507835.5:c.-31C=	ENSP00000426839.1:n.-31C=
ENST00000508053.5:c.3420C=	ENSP00000424571.1:p.Cys1140=
ENST00000508989.5:c.3321C=	ENSP00000425596.1:p.Cys1107=
ENST00000619499.4:c.3417C=	ENSP00000482132.1:p.Cys1139=
NM_001999.3:c.3420C=	NP_001990.2:p.Cys1140=
XM_017009228.2:c.3267C=	XP_016864717.1:p.Cys1089=
NM_001999.4:c.3420C= MANE Select	NP_001990.2:p.Cys1140=