Canonical Allele Identifier: CA281512
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519
ClinVar RCV Id: RCV000000548
dbSNP Id: rs137852825

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335544C>T , CM000667.2:g.128335544C>T GRCh38
NC_000005.9:g.127671236C>T , CM000667.1:g.127671236C>T GRCh37
NC_000005.8:g.127699135C>T NCBI36
NG_008750.1:g.207500G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.542G>A
ENST00000703785.1:n.623G>A
ENST00000262464.9:c.3758G>A MANE Select ENSP00000262464.4:p.Cys1253Tyr
ENST00000262464.8:c.3758G>A ENSP00000262464.4:p.Cys1253Tyr
ENST00000507835.5:c.308G>A ENSP00000426839.1:p.Cys103Tyr
ENST00000508053.5:c.3758G>A ENSP00000424571.1:p.Cys1253Tyr
ENST00000508989.5:c.3659G>A ENSP00000425596.1:p.Cys1220Tyr
ENST00000619499.4:c.3755G>A ENSP00000482132.1:p.Cys1252Tyr
NM_001999.3:c.3758G>A NP_001990.2:p.Cys1253Tyr
XM_017009228.2:c.3605G>A XP_016864717.1:p.Cys1202Tyr
NM_001999.4:c.3758G>A MANE Select NP_001990.2:p.Cys1253Tyr