Canonical Allele Identifier: CA360758609
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128527935C>A , CM000667.2:g.128527935C>A GRCh38
NC_000005.9:g.127863628C>A , CM000667.1:g.127863628C>A GRCh37
NC_000005.8:g.127891527C>A NCBI36
NG_008750.1:g.15108G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000508053.6:c.469G>T ENSP00000424571.2:p.Gly157Trp
ENST00000703787.1:n.176G>T
ENST00000262464.9:c.469G>T MANE Select ENSP00000262464.4:p.Gly157Trp
ENST00000262464.8:c.469G>T ENSP00000262464.4:p.Gly157Trp
ENST00000502468.5:c.469G>T ENSP00000424753.1:p.Gly157Trp
ENST00000508053.5:c.469G>T ENSP00000424571.1:p.Gly157Trp
ENST00000508989.5:c.370G>T ENSP00000425596.1:p.Gly124Trp
ENST00000514742.1:n.1089G>T
ENST00000619499.4:c.469G>T ENSP00000482132.1:p.Gly157Trp
ENST00000620257.1:c.469G>T ENSP00000479157.1:p.Gly157Trp
NM_001999.3:c.469G>T NP_001990.2:p.Gly157Trp
XM_017009228.2:c.469G>T XP_016864717.1:p.Gly157Trp
NM_001999.4:c.469G>T MANE Select NP_001990.2:p.Gly157Trp