Canonical Allele Identifier: CA3396126
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128530627C>T
GRCh37 chr5:g.127866320C>T
Revel Score:
ENST00000262464 (MANE Select) 0.826
ENST00000508053 0.826
ENST00000502468 0.826
gnomAD v2:
5:127866320 C / T
gnomAD v3:
5:128530627 C / T
gnomAD v4:
chr5-128530627-C-T
Joint Max Group AF 0.00002476 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002372 (NFE)
ClinVar RCV:
RCV000226112
RCV001753694
ClinVar Variation:
239084
dbSNP:
778566871
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128530627C>T , CM000667.2:g.128530627C>T GRCh38
NC_000005.9:g.127866320C>T , CM000667.1:g.127866320C>T GRCh37
NC_000005.8:g.127894219C>T NCBI36
NG_008750.1:g.12416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000508053.6:c.404G>A ENSP00000424571.2:p.Gly135Glu
ENST00000703787.1:n.111G>A
ENST00000262464.9:c.404G>A MANE Select ENSP00000262464.4:p.Gly135Glu
ENST00000262464.8:c.404G>A ENSP00000262464.4:p.Gly135Glu
ENST00000502468.5:c.404G>A ENSP00000424753.1:p.Gly135Glu
ENST00000508053.5:c.404G>A ENSP00000424571.1:p.Gly135Glu
ENST00000508989.5:c.338-2660G>A ENSP00000425596.1:n.338-2660G>A
ENST00000514742.1:n.1024G>A
ENST00000619499.4:c.404G>A ENSP00000482132.1:p.Gly135Glu
ENST00000620257.1:c.404G>A ENSP00000479157.1:p.Gly135Glu
NM_001999.3:c.404G>A NP_001990.2:p.Gly135Glu
XM_017009228.2:c.404G>A XP_016864717.1:p.Gly135Glu
NM_001999.4:c.404G>A MANE Select NP_001990.2:p.Gly135Glu
Search 100 bp 5'
Search 100 bp 3'