Canonical Allele Identifier: CA319945

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339004G>A , CM000667.2:g.128339004G>A	GRCh38
NC_000005.9:g.127674696G>A , CM000667.1:g.127674696G>A	GRCh37
NC_000005.8:g.127702595G>A	NCBI36
NG_008750.1:g.204040C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3401C>T MANE Select	NP_001990.2:p.Thr1134Ile
ENST00000262464.9:c.3401C>T MANE Select	ENSP00000262464.4:p.Thr1134Ile
NM_001999.3:c.3401C>T	NP_001990.2:p.Thr1134Ile
ENST00000262464.8:c.3401C>T	ENSP00000262464.4:p.Thr1134Ile
ENST00000507835.5:c.-50C>T	ENSP00000426839.1:n.-50C>T
ENST00000508053.5:c.3401C>T	ENSP00000424571.1:p.Thr1134Ile
ENST00000508989.5:c.3302C>T	ENSP00000425596.1:p.Thr1101Ile
ENST00000619499.4:c.3398C>T	ENSP00000482132.1:p.Thr1133Ile
ENST00000703783.1:n.185C>T
ENST00000703785.1:n.266C>T
XM_017009228.2:c.3248C>T	XP_016864717.1:p.Thr1083Ile