Canonical Allele Identifier: CA3394683
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458771
dbSNP Id: rs140276399

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305876C>T , CM000667.2:g.128305876C>T GRCh38
NC_000005.9:g.127641568C>T , CM000667.1:g.127641568C>T GRCh37
NC_000005.8:g.127669467C>T NCBI36
NG_008750.1:g.237168G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2279G>A
ENST00000703785.1:n.2198G>A
ENST00000262464.9:c.5495G>A MANE Select ENSP00000262464.4:p.Arg1832His
ENST00000262464.8:c.5495G>A ENSP00000262464.4:p.Arg1832His
ENST00000508053.5:c.5495G>A ENSP00000424571.1:p.Arg1832His
ENST00000619499.4:c.5492G>A ENSP00000482132.1:p.Arg1831His
NM_001999.3:c.5495G>A NP_001990.2:p.Arg1832His
XM_017009228.2:c.5342G>A XP_016864717.1:p.Arg1781His
NM_001999.4:c.5495G>A MANE Select NP_001990.2:p.Arg1832His