Canonical Allele Identifier: CA1581271221

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339061T= , CM000667.2:g.128339061T=	GRCh38
NC_000005.9:g.127674753T= , CM000667.1:g.127674753T=	GRCh37
NC_000005.8:g.127702652T=	NCBI36
NG_008750.1:g.203983A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.128A=
ENST00000703785.1:n.209A=
ENST00000262464.9:c.3344A= MANE Select	ENSP00000262464.4:p.Asp1115=
ENST00000262464.8:c.3344A=	ENSP00000262464.4:p.Asp1115=
ENST00000507835.5:c.-107A=	ENSP00000426839.1:n.-107A=
ENST00000508053.5:c.3344A=	ENSP00000424571.1:p.Asp1115=
ENST00000508989.5:c.3245A=	ENSP00000425596.1:p.Asp1082=
ENST00000619499.4:c.3341A=	ENSP00000482132.1:p.Asp1114=
NM_001999.3:c.3344A=	NP_001990.2:p.Asp1115=
XM_017009228.2:c.3191A=	XP_016864717.1:p.Asp1064=
NM_001999.4:c.3344A= MANE Select	NP_001990.2:p.Asp1115=