Canonical Allele Identifier: CA321237
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213392
dbSNP Id: rs375666281

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128361741C>T , CM000667.2:g.128361741C>T GRCh38
NC_000005.9:g.127697434C>T , CM000667.1:g.127697434C>T GRCh37
NC_000005.8:g.127725333C>T NCBI36
NG_008750.1:g.181302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2536G>A MANE Select ENSP00000262464.4:p.Glu846Lys
ENST00000262464.8:c.2536G>A ENSP00000262464.4:p.Glu846Lys
ENST00000508053.5:c.2536G>A ENSP00000424571.1:p.Glu846Lys
ENST00000508989.5:c.2437G>A ENSP00000425596.1:p.Glu813Lys
ENST00000619499.4:c.2533G>A ENSP00000482132.1:p.Glu845Lys
NM_001999.3:c.2536G>A NP_001990.2:p.Glu846Lys
XM_017009228.2:c.2383G>A XP_016864717.1:p.Glu795Lys
NM_001999.4:c.2536G>A MANE Select NP_001990.2:p.Glu846Lys