Canonical Allele Identifier: CA360764398
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519806
dbSNP Id: rs1342942240

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128345578C>T , CM000667.2:g.128345578C>T GRCh38
NC_000005.9:g.127681270C>T , CM000667.1:g.127681270C>T GRCh37
NC_000005.8:g.127709169C>T NCBI36
NG_008750.1:g.197466G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.2996G>A MANE Select ENSP00000262464.4:p.Arg999His
ENST00000262464.8:c.2996G>A ENSP00000262464.4:p.Arg999His
ENST00000508053.5:c.2996G>A ENSP00000424571.1:p.Arg999His
ENST00000508989.5:c.2897G>A ENSP00000425596.1:p.Arg966His
ENST00000619499.4:c.2993G>A ENSP00000482132.1:p.Arg998His
NM_001999.3:c.2996G>A NP_001990.2:p.Arg999His
XM_017009228.2:c.2843G>A XP_016864717.1:p.Arg948His
NM_001999.4:c.2996G>A MANE Select NP_001990.2:p.Arg999His