Canonical Allele Identifier: CA3395968

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128446591T>C , CM000667.2:g.128446591T>C	GRCh38
NC_000005.9:g.127782284T>C , CM000667.1:g.127782284T>C	GRCh37
NC_000005.8:g.127810183T>C	NCBI36
NG_008750.1:g.96452A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.842A>G MANE Select	NP_001990.2:p.Gln281Arg
ENST00000262464.9:c.842A>G MANE Select	ENSP00000262464.4:p.Gln281Arg
NM_001999.3:c.842A>G	NP_001990.2:p.Gln281Arg
ENST00000262464.8:c.842A>G	ENSP00000262464.4:p.Gln281Arg
ENST00000502468.5:c.842A>G	ENSP00000424753.1:p.Gln281Arg
ENST00000508053.5:c.842A>G	ENSP00000424571.1:p.Gln281Arg
ENST00000508053.6:c.842A>G	ENSP00000424571.2:p.Gln281Arg
ENST00000508989.5:c.743A>G	ENSP00000425596.1:p.Gln248Arg
ENST00000514742.1:n.1462A>G
ENST00000619499.4:c.839A>G	ENSP00000482132.1:p.Gln280Arg
ENST00000620257.1:c.*9A>G	ENSP00000479157.1:n.*9A>G
ENST00000703787.1:n.549A>G
XM_017009228.2:c.842A>G	XP_016864717.1:p.Gln281Arg