Canonical Allele Identifier: CA1581269513

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335274T= , CM000667.2:g.128335274T=	GRCh38
NC_000005.9:g.127670966T= , CM000667.1:g.127670966T=	GRCh37
NC_000005.8:g.127698865T=	NCBI36
NG_008750.1:g.207770A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.653A=
ENST00000703785.1:n.734A=
ENST00000262464.9:c.3869A= MANE Select	ENSP00000262464.4:p.Asn1290=
ENST00000262464.8:c.3869A=	ENSP00000262464.4:p.Asn1290=
ENST00000507835.5:c.419A=	ENSP00000426839.1:p.Asn140=
ENST00000508053.5:c.3869A=	ENSP00000424571.1:p.Asn1290=
ENST00000508989.5:c.3770A=	ENSP00000425596.1:p.Asn1257=
ENST00000619499.4:c.3866A=	ENSP00000482132.1:p.Asn1289=
NM_001999.3:c.3869A=	NP_001990.2:p.Asn1290=
XM_017009228.2:c.3716A=	XP_016864717.1:p.Asn1239=
NM_001999.4:c.3869A= MANE Select	NP_001990.2:p.Asn1290=