Canonical Allele Identifier: CA321049
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213262
ClinVar RCV Id: RCV000196628
dbSNP Id: rs863223547
MyVariant Identifiers: chr5:g.127863572A>T (hg19) chr5:g.128527879A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128527879A>T , CM000667.2:g.128527879A>T GRCh38
NC_000005.9:g.127863572A>T , CM000667.1:g.127863572A>T GRCh37
NC_000005.8:g.127891471A>T NCBI36
NG_008750.1:g.15164T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000508053.6:c.525T>A ENSP00000424571.2:p.Cys175Ter
ENST00000703787.1:n.232T>A
ENST00000262464.9:c.525T>A MANE Select ENSP00000262464.4:p.Cys175Ter
ENST00000262464.8:c.525T>A ENSP00000262464.4:p.Cys175Ter
ENST00000502468.5:c.525T>A ENSP00000424753.1:p.Cys175Ter
ENST00000508053.5:c.525T>A ENSP00000424571.1:p.Cys175Ter
ENST00000508989.5:c.426T>A ENSP00000425596.1:p.Cys142Ter
ENST00000514742.1:n.1145T>A
ENST00000619499.4:c.525T>A ENSP00000482132.1:p.Cys175Ter
ENST00000620257.1:c.525T>A ENSP00000479157.1:p.Cys175Ter
NM_001999.3:c.525T>A NP_001990.2:p.Cys175Ter
XM_017009228.2:c.525T>A XP_016864717.1:p.Cys175Ter
NM_001999.4:c.525T>A MANE Select NP_001990.2:p.Cys175Ter
Search 100 bp 5'
Search 100 bp 3'