Canonical Allele Identifier: CA10587614
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 264140
ClinVar RCV Id: RCV001764238 RCV002311080 RCV001859459
dbSNP Id: rs886039059
gnomAD v4: 5-128338105-G-A
COSMIC: COSM203482 COSM3849861
MyVariant Identifiers: chr5:g.127673797G>A (hg19) chr5:g.128338105G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338105G>A , CM000667.2:g.128338105G>A GRCh38
NC_000005.9:g.127673797G>A , CM000667.1:g.127673797G>A GRCh37
NC_000005.8:g.127701696G>A NCBI36
NG_008750.1:g.204939C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.274C>T
ENST00000703785.1:n.355C>T
ENST00000262464.9:c.3490C>T MANE Select ENSP00000262464.4:p.Arg1164Cys
ENST00000262464.8:c.3490C>T ENSP00000262464.4:p.Arg1164Cys
ENST00000507835.5:c.40C>T ENSP00000426839.1:p.Arg14Cys
ENST00000508053.5:c.3490C>T ENSP00000424571.1:p.Arg1164Cys
ENST00000508989.5:c.3391C>T ENSP00000425596.1:p.Arg1131Cys
ENST00000619499.4:c.3487C>T ENSP00000482132.1:p.Arg1163Cys
NM_001999.3:c.3490C>T NP_001990.2:p.Arg1164Cys
XM_017009228.2:c.3337C>T XP_016864717.1:p.Arg1113Cys
NM_001999.4:c.3490C>T MANE Select NP_001990.2:p.Arg1164Cys
Search 100 bp 5'
Search 100 bp 3'