Canonical Allele Identifier: CA1581269622

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335540G= , CM000667.2:g.128335540G=	GRCh38
NC_000005.9:g.127671232G= , CM000667.1:g.127671232G=	GRCh37
NC_000005.8:g.127699131G=	NCBI36
NG_008750.1:g.207504C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.546C=
ENST00000703785.1:n.627C=
ENST00000262464.9:c.3762C= MANE Select	ENSP00000262464.4:p.Asp1254=
ENST00000262464.8:c.3762C=	ENSP00000262464.4:p.Asp1254=
ENST00000507835.5:c.312C=	ENSP00000426839.1:p.Asp104=
ENST00000508053.5:c.3762C=	ENSP00000424571.1:p.Asp1254=
ENST00000508989.5:c.3663C=	ENSP00000425596.1:p.Asp1221=
ENST00000619499.4:c.3759C=	ENSP00000482132.1:p.Asp1253=
NM_001999.3:c.3762C=	NP_001990.2:p.Asp1254=
XM_017009228.2:c.3609C=	XP_016864717.1:p.Asp1203=
NM_001999.4:c.3762C= MANE Select	NP_001990.2:p.Asp1254=