Canonical Allele Identifier: CA1581270763

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338118A= , CM000667.2:g.128338118A=	GRCh38
NC_000005.9:g.127673810A= , CM000667.1:g.127673810A=	GRCh37
NC_000005.8:g.127701709A=	NCBI36
NG_008750.1:g.204926T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.261T=
ENST00000703785.1:n.342T=
ENST00000262464.9:c.3477T= MANE Select	ENSP00000262464.4:p.Ile1159=
ENST00000262464.8:c.3477T=	ENSP00000262464.4:p.Ile1159=
ENST00000507835.5:c.27T=	ENSP00000426839.1:p.Ile9=
ENST00000508053.5:c.3477T=	ENSP00000424571.1:p.Ile1159=
ENST00000508989.5:c.3378T=	ENSP00000425596.1:p.Ile1126=
ENST00000619499.4:c.3474T=	ENSP00000482132.1:p.Ile1158=
NM_001999.3:c.3477T=	NP_001990.2:p.Ile1159=
XM_017009228.2:c.3324T=	XP_016864717.1:p.Ile1108=
NM_001999.4:c.3477T= MANE Select	NP_001990.2:p.Ile1159=