Canonical Allele Identifier: CA360742655

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128377867C>A , CM000667.2:g.128377867C>A	GRCh38
NC_000005.9:g.127713560C>A , CM000667.1:g.127713560C>A	GRCh37
NC_000005.8:g.127741459C>A	NCBI36
NG_008750.1:g.165176G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.1734G>T MANE Select	NP_001990.2:p.Glu578Asp
ENST00000262464.9:c.1734G>T MANE Select	ENSP00000262464.4:p.Glu578Asp
NM_001999.3:c.1734G>T	NP_001990.2:p.Glu578Asp
ENST00000262464.8:c.1734G>T	ENSP00000262464.4:p.Glu578Asp
ENST00000508053.5:c.1734G>T	ENSP00000424571.1:p.Glu578Asp
ENST00000508989.5:c.1635G>T	ENSP00000425596.1:p.Glu545Asp
ENST00000619499.4:c.1731G>T	ENSP00000482132.1:p.Glu577Asp
XM_017009228.2:c.1581G>T	XP_016864717.1:p.Glu527Asp