Canonical Allele Identifier: CA3395008
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128330620C>T
GRCh37 chr5:g.127666312C>T
Revel Score:
ENST00000262464 (MANE Select) 0.388
ENST00000508053 0.388
ENST00000507835 0.388
ENST00000508989 0.388
gnomAD v2:
5:127666312 C / T
gnomAD v3:
5:128330620 C / T
gnomAD v4:
chr5-128330620-C-T
Joint Max Group AF 0.0004305 (MID)
Genomes Max Group AF 0.00035803 (AFR)
Exomes Max Group AF 0.00045316 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330620C>T , CM000667.2:g.128330620C>T GRCh38
NC_000005.9:g.127666312C>T , CM000667.1:g.127666312C>T GRCh37
NC_000005.8:g.127694211C>T NCBI36
NG_008750.1:g.212424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1082G>A
ENST00000703785.1:n.1163G>A
ENST00000262464.9:c.4298G>A MANE Select ENSP00000262464.4:p.Arg1433His
ENST00000262464.8:c.4298G>A ENSP00000262464.4:p.Arg1433His
ENST00000507835.5:c.848G>A ENSP00000426839.1:p.Arg283His
ENST00000508053.5:c.4298G>A ENSP00000424571.1:p.Arg1433His
ENST00000508989.5:c.4199G>A ENSP00000425596.1:p.Arg1400His
ENST00000619499.4:c.4295G>A ENSP00000482132.1:p.Arg1432His
NM_001999.3:c.4298G>A NP_001990.2:p.Arg1433His
XM_017009228.2:c.4145G>A XP_016864717.1:p.Arg1382His
NM_001999.4:c.4298G>A MANE Select NP_001990.2:p.Arg1433His
Search 100 bp 5'
Search 100 bp 3'