Canonical Allele Identifier: CA3395806
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128393182C>T
GRCh37 chr5:g.127728875C>T
Revel Score:
ENST00000262464 (MANE Select) 0.536
ENST00000508053 0.536
ENST00000508989 0.536
gnomAD v2:
5:127728875 C / T
gnomAD v3:
5:128393182 C / T
gnomAD v4:
chr5-128393182-C-T
Joint Max Group AF 0.0000103 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000542787
ClinVar Variation:
458735
dbSNP:
376096770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128393182C>T , CM000667.2:g.128393182C>T GRCh38
NC_000005.9:g.127728875C>T , CM000667.1:g.127728875C>T GRCh37
NC_000005.8:g.127756774C>T NCBI36
NG_008750.1:g.149861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.1125G>A
ENST00000262464.9:c.1418G>A MANE Select ENSP00000262464.4:p.Gly473Glu
ENST00000262464.8:c.1418G>A ENSP00000262464.4:p.Gly473Glu
ENST00000508053.5:c.1418G>A ENSP00000424571.1:p.Gly473Glu
ENST00000508989.5:c.1319G>A ENSP00000425596.1:p.Gly440Glu
ENST00000619499.4:c.1415G>A ENSP00000482132.1:p.Gly472Glu
NM_001999.3:c.1418G>A NP_001990.2:p.Gly473Glu
XM_017009228.2:c.1265G>A XP_016864717.1:p.Gly422Glu
NM_001999.4:c.1418G>A MANE Select NP_001990.2:p.Gly473Glu
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