Canonical Allele Identifier: CA1581270754

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338100G= , CM000667.2:g.128338100G=	GRCh38
NC_000005.9:g.127673792G= , CM000667.1:g.127673792G=	GRCh37
NC_000005.8:g.127701691G=	NCBI36
NG_008750.1:g.204944C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.279C=
ENST00000703785.1:n.360C=
ENST00000262464.9:c.3495C= MANE Select	ENSP00000262464.4:p.Asn1165=
ENST00000262464.8:c.3495C=	ENSP00000262464.4:p.Asn1165=
ENST00000507835.5:c.45C=	ENSP00000426839.1:p.Asn15=
ENST00000508053.5:c.3495C=	ENSP00000424571.1:p.Asn1165=
ENST00000508989.5:c.3396C=	ENSP00000425596.1:p.Asn1132=
ENST00000619499.4:c.3492C=	ENSP00000482132.1:p.Asn1164=
NM_001999.3:c.3495C=	NP_001990.2:p.Asn1165=
XM_017009228.2:c.3342C=	XP_016864717.1:p.Asn1114=
NM_001999.4:c.3495C= MANE Select	NP_001990.2:p.Asn1165=