Canonical Allele Identifier: CA1581271231

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339074G= , CM000667.2:g.128339074G=	GRCh38
NC_000005.9:g.127674766G= , CM000667.1:g.127674766G=	GRCh37
NC_000005.8:g.127702665G=	NCBI36
NG_008750.1:g.203970C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.115C=
ENST00000703785.1:n.196C=
ENST00000262464.9:c.3344-13C= MANE Select	ENSP00000262464.4:n.3344-13C=
ENST00000262464.8:c.3344-13C=	ENSP00000262464.4:n.3344-13C=
ENST00000507835.5:c.-120C=	ENSP00000426839.1:n.-120C=
ENST00000508053.5:c.3344-13C=	ENSP00000424571.1:n.3344-13C=
ENST00000508989.5:c.3245-13C=	ENSP00000425596.1:n.3245-13C=
ENST00000619499.4:c.3341-13C=	ENSP00000482132.1:n.3341-13C=
NM_001999.3:c.3344-13C=	NP_001990.2:n.3344-13C=
XM_017009228.2:c.3191-13C=	XP_016864717.1:n.3191-13C=
NM_001999.4:c.3344-13C= MANE Select	NP_001990.2:n.3344-13C=