Canonical Allele Identifier: CA1581234867

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261859C= , CM000667.2:g.128261859C=	GRCh38
NC_000005.9:g.127597551C= , CM000667.1:g.127597551C=	GRCh37
NC_000005.8:g.127625450C=	NCBI36
NG_008750.1:g.281185G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.8241G= MANE Select	ENSP00000262464.4:p.Leu2747=
ENST00000262464.8:c.8241G=	ENSP00000262464.4:p.Leu2747=
ENST00000508053.5:c.8241G=	ENSP00000424571.1:p.Leu2747=
ENST00000619499.4:c.8238G=	ENSP00000482132.1:p.Leu2746=
NM_001999.3:c.8241G=	NP_001990.2:p.Leu2747=
XM_017009228.2:c.8088G=	XP_016864717.1:p.Leu2696=
NM_001999.4:c.8241G= MANE Select	NP_001990.2:p.Leu2747=