Canonical Allele Identifier: CA1581269514

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335277T= , CM000667.2:g.128335277T=	GRCh38
NC_000005.9:g.127670969T= , CM000667.1:g.127670969T=	GRCh37
NC_000005.8:g.127698868T=	NCBI36
NG_008750.1:g.207767A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.650A=
ENST00000703785.1:n.731A=
ENST00000262464.9:c.3866A= MANE Select	ENSP00000262464.4:p.Asn1289=
ENST00000262464.8:c.3866A=	ENSP00000262464.4:p.Asn1289=
ENST00000507835.5:c.416A=	ENSP00000426839.1:p.Asn139=
ENST00000508053.5:c.3866A=	ENSP00000424571.1:p.Asn1289=
ENST00000508989.5:c.3767A=	ENSP00000425596.1:p.Asn1256=
ENST00000619499.4:c.3863A=	ENSP00000482132.1:p.Asn1288=
NM_001999.3:c.3866A=	NP_001990.2:p.Asn1289=
XM_017009228.2:c.3713A=	XP_016864717.1:p.Asn1238=
NM_001999.4:c.3866A= MANE Select	NP_001990.2:p.Asn1289=