Canonical Allele Identifier: CA321025
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213321
ClinVar RCV Id: RCV000196600 RCV000814432 RCV004020358
dbSNP Id: rs776031352
ExAC: 5:127671201 C / T
gnomAD v2: 5-127671201-C-T
gnomAD v3: 5-128335509-C-T
gnomAD v4: 5-128335509-C-T
COSMIC: COSM3136133 COSM3136134
MyVariant Identifiers: chr5:g.127671201C>T (hg19) chr5:g.128335509C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335509C>T , CM000667.2:g.128335509C>T GRCh38
NC_000005.9:g.127671201C>T , CM000667.1:g.127671201C>T GRCh37
NC_000005.8:g.127699100C>T NCBI36
NG_008750.1:g.207535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.577G>A
ENST00000703785.1:n.658G>A
ENST00000262464.9:c.3793G>A MANE Select ENSP00000262464.4:p.Glu1265Lys
ENST00000262464.8:c.3793G>A ENSP00000262464.4:p.Glu1265Lys
ENST00000507835.5:c.343G>A ENSP00000426839.1:p.Glu115Lys
ENST00000508053.5:c.3793G>A ENSP00000424571.1:p.Glu1265Lys
ENST00000508989.5:c.3694G>A ENSP00000425596.1:p.Glu1232Lys
ENST00000619499.4:c.3790G>A ENSP00000482132.1:p.Glu1264Lys
NM_001999.3:c.3793G>A NP_001990.2:p.Glu1265Lys
XM_017009228.2:c.3640G>A XP_016864717.1:p.Glu1214Lys
NM_001999.4:c.3793G>A MANE Select NP_001990.2:p.Glu1265Lys
Search 100 bp 5'
Search 100 bp 3'