Canonical Allele Identifier: CA319740
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 210996
dbSNP Id: rs78727187

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332993G>T , CM000667.2:g.128332993G>T GRCh38
NC_000005.9:g.127668685G>T , CM000667.1:g.127668685G>T GRCh37
NC_000005.8:g.127696584G>T NCBI36
NG_008750.1:g.210051C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.925C>A
ENST00000703785.1:n.1006C>A
ENST00000262464.9:c.4141C>A MANE Select ENSP00000262464.4:p.His1381Asn
ENST00000262464.8:c.4141C>A ENSP00000262464.4:p.His1381Asn
ENST00000507835.5:c.691C>A ENSP00000426839.1:p.His231Asn
ENST00000508053.5:c.4141C>A ENSP00000424571.1:p.His1381Asn
ENST00000508989.5:c.4042C>A ENSP00000425596.1:p.His1348Asn
ENST00000619499.4:c.4138C>A ENSP00000482132.1:p.His1380Asn
NM_001999.3:c.4141C>A NP_001990.2:p.His1381Asn
XM_017009228.2:c.3988C>A XP_016864717.1:p.His1330Asn
NM_001999.4:c.4141C>A MANE Select NP_001990.2:p.His1381Asn