Canonical Allele Identifier: CA1581271197

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339009G= , CM000667.2:g.128339009G=	GRCh38
NC_000005.9:g.127674701G= , CM000667.1:g.127674701G=	GRCh37
NC_000005.8:g.127702600G=	NCBI36
NG_008750.1:g.204035C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.180C=
ENST00000703785.1:n.261C=
ENST00000262464.9:c.3396C= MANE Select	ENSP00000262464.4:p.Val1132=
ENST00000262464.8:c.3396C=	ENSP00000262464.4:p.Val1132=
ENST00000507835.5:c.-55C=	ENSP00000426839.1:n.-55C=
ENST00000508053.5:c.3396C=	ENSP00000424571.1:p.Val1132=
ENST00000508989.5:c.3297C=	ENSP00000425596.1:p.Val1099=
ENST00000619499.4:c.3393C=	ENSP00000482132.1:p.Val1131=
NM_001999.3:c.3396C=	NP_001990.2:p.Val1132=
XM_017009228.2:c.3243C=	XP_016864717.1:p.Val1081=
NM_001999.4:c.3396C= MANE Select	NP_001990.2:p.Val1132=