Canonical Allele Identifier: CA1581270761

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338114C= , CM000667.2:g.128338114C=	GRCh38
NC_000005.9:g.127673806C= , CM000667.1:g.127673806C=	GRCh37
NC_000005.8:g.127701705C=	NCBI36
NG_008750.1:g.204930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.265G=
ENST00000703785.1:n.346G=
ENST00000262464.9:c.3481G= MANE Select	ENSP00000262464.4:p.Glu1161=
ENST00000262464.8:c.3481G=	ENSP00000262464.4:p.Glu1161=
ENST00000507835.5:c.31G=	ENSP00000426839.1:p.Glu11=
ENST00000508053.5:c.3481G=	ENSP00000424571.1:p.Glu1161=
ENST00000508989.5:c.3382G=	ENSP00000425596.1:p.Glu1128=
ENST00000619499.4:c.3478G=	ENSP00000482132.1:p.Glu1160=
NM_001999.3:c.3481G=	NP_001990.2:p.Glu1161=
XM_017009228.2:c.3328G=	XP_016864717.1:p.Glu1110=
NM_001999.4:c.3481G= MANE Select	NP_001990.2:p.Glu1161=