Canonical Allele Identifier: CA360757498

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335266T>A , CM000667.2:g.128335266T>A	GRCh38
NC_000005.9:g.127670958T>A , CM000667.1:g.127670958T>A	GRCh37
NC_000005.8:g.127698857T>A	NCBI36
NG_008750.1:g.207778A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3877A>T MANE Select	NP_001990.2:p.Ile1293Phe
ENST00000262464.9:c.3877A>T MANE Select	ENSP00000262464.4:p.Ile1293Phe
NM_001999.3:c.3877A>T	NP_001990.2:p.Ile1293Phe
ENST00000262464.8:c.3877A>T	ENSP00000262464.4:p.Ile1293Phe
ENST00000507835.5:c.427A>T	ENSP00000426839.1:p.Ile143Phe
ENST00000508053.5:c.3877A>T	ENSP00000424571.1:p.Ile1293Phe
ENST00000508989.5:c.3778A>T	ENSP00000425596.1:p.Ile1260Phe
ENST00000619499.4:c.3874A>T	ENSP00000482132.1:p.Ile1292Phe
ENST00000703783.1:n.661A>T
ENST00000703785.1:n.742A>T
XM_017009228.2:c.3724A>T	XP_016864717.1:p.Ile1242Phe