Canonical Allele Identifier: CA360766488
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300891G>A , CM000667.2:g.128300891G>A GRCh38
NC_000005.9:g.127636583G>A , CM000667.1:g.127636583G>A GRCh37
NC_000005.8:g.127664482G>A NCBI36
NG_008750.1:g.242153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2876C>T
ENST00000703785.1:n.2795C>T
ENST00000262464.9:c.6092C>T MANE Select ENSP00000262464.4:p.Thr2031Ile
ENST00000262464.8:c.6092C>T ENSP00000262464.4:p.Thr2031Ile
ENST00000508053.5:c.6092C>T ENSP00000424571.1:p.Thr2031Ile
ENST00000619499.4:c.6089C>T ENSP00000482132.1:p.Thr2030Ile
NM_001999.3:c.6092C>T NP_001990.2:p.Thr2031Ile
XM_017009228.2:c.5939C>T XP_016864717.1:p.Thr1980Ile
NM_001999.4:c.6092C>T MANE Select NP_001990.2:p.Thr2031Ile