Canonical Allele Identifier: CA3396003

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464744A>G , CM000667.2:g.128464744A>G	GRCh38
NC_000005.9:g.127800437A>G , CM000667.1:g.127800437A>G	GRCh37
NC_000005.8:g.127828336A>G	NCBI36
NG_008750.1:g.78299T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.806T>C MANE Select	NP_001990.2:p.Ile269Thr
ENST00000262464.9:c.806T>C MANE Select	ENSP00000262464.4:p.Ile269Thr
NM_001999.3:c.806T>C	NP_001990.2:p.Ile269Thr
ENST00000262464.8:c.806T>C	ENSP00000262464.4:p.Ile269Thr
ENST00000502468.5:c.806T>C	ENSP00000424753.1:p.Ile269Thr
ENST00000508053.5:c.806T>C	ENSP00000424571.1:p.Ile269Thr
ENST00000508053.6:c.806T>C	ENSP00000424571.2:p.Ile269Thr
ENST00000508989.5:c.707T>C	ENSP00000425596.1:p.Ile236Thr
ENST00000514742.1:n.1426T>C
ENST00000619499.4:c.803T>C	ENSP00000482132.1:p.Ile268Thr
ENST00000620257.1:c.804T>C	ENSP00000479157.1:p.His268=
ENST00000703787.1:n.513T>C
XM_017009228.2:c.806T>C	XP_016864717.1:p.Ile269Thr