Canonical Allele Identifier: CA3396006

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464762C>T , CM000667.2:g.128464762C>T	GRCh38
NC_000005.9:g.127800455C>T , CM000667.1:g.127800455C>T	GRCh37
NC_000005.8:g.127828354C>T	NCBI36
NG_008750.1:g.78281G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.788G>A MANE Select	NP_001990.2:p.Arg263Gln
ENST00000262464.9:c.788G>A MANE Select	ENSP00000262464.4:p.Arg263Gln
NM_001999.3:c.788G>A	NP_001990.2:p.Arg263Gln
ENST00000262464.8:c.788G>A	ENSP00000262464.4:p.Arg263Gln
ENST00000502468.5:c.788G>A	ENSP00000424753.1:p.Arg263Gln
ENST00000508053.5:c.788G>A	ENSP00000424571.1:p.Arg263Gln
ENST00000508053.6:c.788G>A	ENSP00000424571.2:p.Arg263Gln
ENST00000508989.5:c.689G>A	ENSP00000425596.1:p.Arg230Gln
ENST00000514742.1:n.1408G>A
ENST00000619499.4:c.785G>A	ENSP00000482132.1:p.Arg262Gln
ENST00000620257.1:c.788G>A	ENSP00000479157.1:p.Arg263Gln
ENST00000703787.1:n.495G>A
XM_017009228.2:c.788G>A	XP_016864717.1:p.Arg263Gln