Canonical Allele Identifier: CA3396003
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128464744A>G
GRCh37 chr5:g.127800437A>G
Revel Score:
ENST00000262464 (MANE Select) 0.307
ENST00000508053 0.307
ENST00000508989 0.307
ENST00000502468 0.307
gnomAD v2:
5:127800437 A / G
gnomAD v3:
5:128464744 A / G
gnomAD v4:
chr5-128464744-A-G
Joint Max Group AF 0.00044578 (MID)
Genomes Max Group AF 0.0000729 (SAS)
Exomes Max Group AF 0.00046986 (MID)
ClinVar Allele:
395114
ClinVar RCV:
RCV000462092
ClinVar Variation:
411837
dbSNP:
771008563
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128464744A>G , CM000667.2:g.128464744A>G GRCh38
NC_000005.9:g.127800437A>G , CM000667.1:g.127800437A>G GRCh37
NC_000005.8:g.127828336A>G NCBI36
NG_008750.1:g.78299T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000508053.6:c.806T>C ENSP00000424571.2:p.Ile269Thr
ENST00000703787.1:n.513T>C
ENST00000262464.9:c.806T>C MANE Select ENSP00000262464.4:p.Ile269Thr
ENST00000262464.8:c.806T>C ENSP00000262464.4:p.Ile269Thr
ENST00000502468.5:c.806T>C ENSP00000424753.1:p.Ile269Thr
ENST00000508053.5:c.806T>C ENSP00000424571.1:p.Ile269Thr
ENST00000508989.5:c.707T>C ENSP00000425596.1:p.Ile236Thr
ENST00000514742.1:n.1426T>C
ENST00000619499.4:c.803T>C ENSP00000482132.1:p.Ile268Thr
ENST00000620257.1:c.804T>C ENSP00000479157.1:p.His268=
NM_001999.3:c.806T>C NP_001990.2:p.Ile269Thr
XM_017009228.2:c.806T>C XP_016864717.1:p.Ile269Thr
NM_001999.4:c.806T>C MANE Select NP_001990.2:p.Ile269Thr
Search 100 bp 5'
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