Canonical Allele Identifier: CA1581267368

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330648G= , CM000667.2:g.128330648G=	GRCh38
NC_000005.9:g.127666340G= , CM000667.1:g.127666340G=	GRCh37
NC_000005.8:g.127694239G=	NCBI36
NG_008750.1:g.212396C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1054C=
ENST00000703785.1:n.1135C=
ENST00000262464.9:c.4270C= MANE Select	ENSP00000262464.4:p.Gln1424=
ENST00000262464.8:c.4270C=	ENSP00000262464.4:p.Gln1424=
ENST00000507835.5:c.820C=	ENSP00000426839.1:p.Gln274=
ENST00000508053.5:c.4270C=	ENSP00000424571.1:p.Gln1424=
ENST00000508989.5:c.4171C=	ENSP00000425596.1:p.Gln1391=
ENST00000619499.4:c.4267C=	ENSP00000482132.1:p.Gln1423=
NM_001999.3:c.4270C=	NP_001990.2:p.Gln1424=
XM_017009228.2:c.4117C=	XP_016864717.1:p.Gln1373=
NM_001999.4:c.4270C= MANE Select	NP_001990.2:p.Gln1424=