Canonical Allele Identifier: CA1581359010

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527931G= , CM000667.2:g.128527931G=	GRCh38
NC_000005.9:g.127863624G= , CM000667.1:g.127863624G=	GRCh37
NC_000005.8:g.127891523G=	NCBI36
NG_008750.1:g.15112C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.473C=	ENSP00000424571.2:p.Thr158=
ENST00000703787.1:n.180C=
ENST00000262464.9:c.473C= MANE Select	ENSP00000262464.4:p.Thr158=
ENST00000262464.8:c.473C=	ENSP00000262464.4:p.Thr158=
ENST00000502468.5:c.473C=	ENSP00000424753.1:p.Thr158=
ENST00000508053.5:c.473C=	ENSP00000424571.1:p.Thr158=
ENST00000508989.5:c.374C=	ENSP00000425596.1:p.Thr125=
ENST00000514742.1:n.1093C=
ENST00000619499.4:c.473C=	ENSP00000482132.1:p.Thr158=
ENST00000620257.1:c.473C=	ENSP00000479157.1:p.Thr158=
NM_001999.3:c.473C=	NP_001990.2:p.Thr158=
XM_017009228.2:c.473C=	XP_016864717.1:p.Thr158=
NM_001999.4:c.473C= MANE Select	NP_001990.2:p.Thr158=