Canonical Allele Identifier: CA360758663
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128527958C>G , CM000667.2:g.128527958C>G GRCh38
NC_000005.9:g.127863651C>G , CM000667.1:g.127863651C>G GRCh37
NC_000005.8:g.127891550C>G NCBI36
NG_008750.1:g.15085G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000508053.6:c.446G>C ENSP00000424571.2:p.Cys149Ser
ENST00000703787.1:n.153G>C
ENST00000262464.9:c.446G>C MANE Select ENSP00000262464.4:p.Cys149Ser
ENST00000262464.8:c.446G>C ENSP00000262464.4:p.Cys149Ser
ENST00000502468.5:c.446G>C ENSP00000424753.1:p.Cys149Ser
ENST00000508053.5:c.446G>C ENSP00000424571.1:p.Cys149Ser
ENST00000508989.5:c.347G>C ENSP00000425596.1:p.Cys116Ser
ENST00000514742.1:n.1066G>C
ENST00000619499.4:c.446G>C ENSP00000482132.1:p.Cys149Ser
ENST00000620257.1:c.446G>C ENSP00000479157.1:p.Cys149Ser
NM_001999.3:c.446G>C NP_001990.2:p.Cys149Ser
XM_017009228.2:c.446G>C XP_016864717.1:p.Cys149Ser
NM_001999.4:c.446G>C MANE Select NP_001990.2:p.Cys149Ser