Canonical Allele Identifier: CA1581268403

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332992T= , CM000667.2:g.128332992T=	GRCh38
NC_000005.9:g.127668684T= , CM000667.1:g.127668684T=	GRCh37
NC_000005.8:g.127696583T=	NCBI36
NG_008750.1:g.210052A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.926A=
ENST00000703785.1:n.1007A=
ENST00000262464.9:c.4142A= MANE Select	ENSP00000262464.4:p.His1381=
ENST00000262464.8:c.4142A=	ENSP00000262464.4:p.His1381=
ENST00000507835.5:c.692A=	ENSP00000426839.1:p.His231=
ENST00000508053.5:c.4142A=	ENSP00000424571.1:p.His1381=
ENST00000508989.5:c.4043A=	ENSP00000425596.1:p.His1348=
ENST00000619499.4:c.4139A=	ENSP00000482132.1:p.His1380=
NM_001999.3:c.4142A=	NP_001990.2:p.His1381=
XM_017009228.2:c.3989A=	XP_016864717.1:p.His1330=
NM_001999.4:c.4142A= MANE Select	NP_001990.2:p.His1381=