Canonical Allele Identifier: CA16604692
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128527916T>C
GRCh37 chr5:g.127863609T>C
Revel Score:
ENST00000262464 (MANE Select) 0.255
ENST00000508053 0.255
ENST00000508989 0.255
ENST00000502468 0.255
gnomAD v2:
5:127863609 T / C
gnomAD v3:
5:128527916 T / C
gnomAD v4:
chr5-128527916-T-C
Joint Max Group AF 0.00001774 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128527916T>C , CM000667.2:g.128527916T>C GRCh38
NC_000005.9:g.127863609T>C , CM000667.1:g.127863609T>C GRCh37
NC_000005.8:g.127891508T>C NCBI36
NG_008750.1:g.15127A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000508053.6:c.488A>G ENSP00000424571.2:p.His163Arg
ENST00000703787.1:n.195A>G
ENST00000262464.9:c.488A>G MANE Select ENSP00000262464.4:p.His163Arg
ENST00000262464.8:c.488A>G ENSP00000262464.4:p.His163Arg
ENST00000502468.5:c.488A>G ENSP00000424753.1:p.His163Arg
ENST00000508053.5:c.488A>G ENSP00000424571.1:p.His163Arg
ENST00000508989.5:c.389A>G ENSP00000425596.1:p.His130Arg
ENST00000514742.1:n.1108A>G
ENST00000619499.4:c.488A>G ENSP00000482132.1:p.His163Arg
ENST00000620257.1:c.488A>G ENSP00000479157.1:p.His163Arg
NM_001999.3:c.488A>G NP_001990.2:p.His163Arg
XM_017009228.2:c.488A>G XP_016864717.1:p.His163Arg
NM_001999.4:c.488A>G MANE Select NP_001990.2:p.His163Arg
Search 100 bp 5'
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