Canonical Allele Identifier: CA321237

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128361741C>T , CM000667.2:g.128361741C>T	GRCh38
NC_000005.9:g.127697434C>T , CM000667.1:g.127697434C>T	GRCh37
NC_000005.8:g.127725333C>T	NCBI36
NG_008750.1:g.181302G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.2536G>A MANE Select	NP_001990.2:p.Glu846Lys
ENST00000262464.9:c.2536G>A MANE Select	ENSP00000262464.4:p.Glu846Lys
NM_001999.3:c.2536G>A	NP_001990.2:p.Glu846Lys
ENST00000262464.8:c.2536G>A	ENSP00000262464.4:p.Glu846Lys
ENST00000508053.5:c.2536G>A	ENSP00000424571.1:p.Glu846Lys
ENST00000508989.5:c.2437G>A	ENSP00000425596.1:p.Glu813Lys
ENST00000619499.4:c.2533G>A	ENSP00000482132.1:p.Glu845Lys
XM_017009228.2:c.2383G>A	XP_016864717.1:p.Glu795Lys