Canonical Allele Identifier: CA1581292424

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128380874C= , CM000667.2:g.128380874C=	GRCh38
NC_000005.9:g.127716567C= , CM000667.1:g.127716567C=	GRCh37
NC_000005.8:g.127744466C=	NCBI36
NG_008750.1:g.162169G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.1604-1984G= MANE Select	NP_001990.2:n.1604-1984G=
ENST00000262464.9:c.1604-1984G= MANE Select	ENSP00000262464.4:n.1604-1984G=
NM_001999.3:c.1604-1984G=	NP_001990.2:n.1604-1984G=
ENST00000262464.8:c.1604-1984G=	ENSP00000262464.4:n.1604-1984G=
ENST00000508053.5:c.1604-1984G=	ENSP00000424571.1:n.1604-1984G=
ENST00000508989.5:c.1505-1984G=	ENSP00000425596.1:n.1505-1984G=
ENST00000619499.4:c.1601-1984G=	ENSP00000482132.1:n.1601-1984G=
XM_017009228.2:c.1451-1984G=	XP_016864717.1:n.1451-1984G=