Canonical Allele Identifier: CA1581282264

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357312C= , CM000667.2:g.128357312C=	GRCh38
NC_000005.9:g.127693004C= , CM000667.1:g.127693004C=	GRCh37
NC_000005.8:g.127720903C=	NCBI36
NG_008750.1:g.185732G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2638G= MANE Select	ENSP00000262464.4:p.Gly880=
ENST00000262464.8:c.2638G=	ENSP00000262464.4:p.Gly880=
ENST00000508053.5:c.2638G=	ENSP00000424571.1:p.Gly880=
ENST00000508989.5:c.2539G=	ENSP00000425596.1:p.Gly847=
ENST00000619499.4:c.2635G=	ENSP00000482132.1:p.Gly879=
NM_001999.3:c.2638G=	NP_001990.2:p.Gly880=
XM_017009228.2:c.2485G=	XP_016864717.1:p.Gly829=
NM_001999.4:c.2638G= MANE Select	NP_001990.2:p.Gly880=