Canonical Allele Identifier: CA244152
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 196780
dbSNP Id: rs794727560

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332983C>T , CM000667.2:g.128332983C>T GRCh38
NC_000005.9:g.127668675C>T , CM000667.1:g.127668675C>T GRCh37
NC_000005.8:g.127696574C>T NCBI36
NG_008750.1:g.210061G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.935G>A
ENST00000703785.1:n.1016G>A
ENST00000262464.9:c.4151G>A MANE Select ENSP00000262464.4:p.Cys1384Tyr
ENST00000262464.8:c.4151G>A ENSP00000262464.4:p.Cys1384Tyr
ENST00000507835.5:c.701G>A ENSP00000426839.1:p.Cys234Tyr
ENST00000508053.5:c.4151G>A ENSP00000424571.1:p.Cys1384Tyr
ENST00000508989.5:c.4052G>A ENSP00000425596.1:p.Cys1351Tyr
ENST00000619499.4:c.4148G>A ENSP00000482132.1:p.Cys1383Tyr
NM_001999.3:c.4151G>A NP_001990.2:p.Cys1384Tyr
XM_017009228.2:c.3998G>A XP_016864717.1:p.Cys1333Tyr
NM_001999.4:c.4151G>A MANE Select NP_001990.2:p.Cys1384Tyr