Canonical Allele Identifier: CA320787
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128339011C>T
GRCh37 chr5:g.127674703C>T
Revel Score:
ENST00000262464 (MANE Select) 0.431
ENST00000508053 0.431
ENST00000508989 0.431
gnomAD v2:
5:127674703 C / T
gnomAD v3:
5:128339011 C / T
gnomAD v4:
chr5-128339011-C-T
Joint Max Group AF 0.00098584 (EAS)
Genomes Max Group AF 0.00023036 (NFE)
Exomes Max Group AF 0.00109254 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128339011C>T , CM000667.2:g.128339011C>T GRCh38
NC_000005.9:g.127674703C>T , CM000667.1:g.127674703C>T GRCh37
NC_000005.8:g.127702602C>T NCBI36
NG_008750.1:g.204033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.178G>A
ENST00000703785.1:n.259G>A
ENST00000262464.9:c.3394G>A MANE Select ENSP00000262464.4:p.Val1132Ile
ENST00000262464.8:c.3394G>A ENSP00000262464.4:p.Val1132Ile
ENST00000507835.5:c.-57G>A ENSP00000426839.1:n.-57G>A
ENST00000508053.5:c.3394G>A ENSP00000424571.1:p.Val1132Ile
ENST00000508989.5:c.3295G>A ENSP00000425596.1:p.Val1099Ile
ENST00000619499.4:c.3391G>A ENSP00000482132.1:p.Val1131Ile
NM_001999.3:c.3394G>A NP_001990.2:p.Val1132Ile
XM_017009228.2:c.3241G>A XP_016864717.1:p.Val1081Ile
NM_001999.4:c.3394G>A MANE Select NP_001990.2:p.Val1132Ile
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