Canonical Allele Identifier: CA1581329121

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464686G= , CM000667.2:g.128464686G=	GRCh38
NC_000005.9:g.127800379G= , CM000667.1:g.127800379G=	GRCh37
NC_000005.8:g.127828278G=	NCBI36
NG_008750.1:g.78357C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.826+38C=	ENSP00000424571.2:n.826+38C=
ENST00000703787.1:n.533+38C=
ENST00000262464.9:c.826+38C= MANE Select	ENSP00000262464.4:n.826+38C=
ENST00000262464.8:c.826+38C=	ENSP00000262464.4:n.826+38C=
ENST00000502468.5:c.826+38C=	ENSP00000424753.1:n.826+38C=
ENST00000508053.5:c.826+38C=	ENSP00000424571.1:n.826+38C=
ENST00000508989.5:c.727+38C=	ENSP00000425596.1:n.727+38C=
ENST00000514742.1:n.1446+38C=
ENST00000619499.4:c.823+38C=	ENSP00000482132.1:n.823+38C=
ENST00000620257.1:c.824+38C=	ENSP00000479157.1:n.824+38C=
NM_001999.3:c.826+38C=	NP_001990.2:n.826+38C=
XM_017009228.2:c.826+38C=	XP_016864717.1:n.826+38C=
NM_001999.4:c.826+38C= MANE Select	NP_001990.2:n.826+38C=