Canonical Allele Identifier: CA3396028

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464870C>T , CM000667.2:g.128464870C>T	GRCh38
NC_000005.9:g.127800563C>T , CM000667.1:g.127800563C>T	GRCh37
NC_000005.8:g.127828462C>T	NCBI36
NG_008750.1:g.78173G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.680G>A MANE Select	NP_001990.2:p.Gly227Glu
ENST00000262464.9:c.680G>A MANE Select	ENSP00000262464.4:p.Gly227Glu
NM_001999.3:c.680G>A	NP_001990.2:p.Gly227Glu
ENST00000262464.8:c.680G>A	ENSP00000262464.4:p.Gly227Glu
ENST00000502468.5:c.680G>A	ENSP00000424753.1:p.Gly227Glu
ENST00000508053.5:c.680G>A	ENSP00000424571.1:p.Gly227Glu
ENST00000508053.6:c.680G>A	ENSP00000424571.2:p.Gly227Glu
ENST00000508989.5:c.581G>A	ENSP00000425596.1:p.Gly194Glu
ENST00000514742.1:n.1300G>A
ENST00000619499.4:c.677G>A	ENSP00000482132.1:p.Gly226Glu
ENST00000620257.1:c.680G>A	ENSP00000479157.1:p.Gly227Glu
ENST00000703787.1:n.387G>A
XM_017009228.2:c.680G>A	XP_016864717.1:p.Gly227Glu