Canonical Allele Identifier: CA322240
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128336002C>T
GRCh37 chr5:g.127671694C>T
Revel Score:
ENST00000262464 (MANE Select) 0.744
ENST00000508053 0.744
ENST00000507835 0.744
ENST00000508989 0.744
gnomAD v2:
5:127671694 C / T
gnomAD v3:
5:128336002 C / T
gnomAD v4:
chr5-128336002-C-T
Joint Max Group AF 0.00076715 (AMR)
Genomes Max Group AF 0.00005281 (AMR)
Exomes Max Group AF 0.00097003 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128336002C>T , CM000667.2:g.128336002C>T GRCh38
NC_000005.9:g.127671694C>T , CM000667.1:g.127671694C>T GRCh37
NC_000005.8:g.127699593C>T NCBI36
NG_008750.1:g.207042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.494G>A
ENST00000703785.1:n.575G>A
ENST00000262464.9:c.3710G>A MANE Select ENSP00000262464.4:p.Arg1237His
ENST00000262464.8:c.3710G>A ENSP00000262464.4:p.Arg1237His
ENST00000507835.5:c.260G>A ENSP00000426839.1:p.Arg87His
ENST00000508053.5:c.3710G>A ENSP00000424571.1:p.Arg1237His
ENST00000508989.5:c.3611G>A ENSP00000425596.1:p.Arg1204His
ENST00000619499.4:c.3707G>A ENSP00000482132.1:p.Arg1236His
NM_001999.3:c.3710G>A NP_001990.2:p.Arg1237His
XM_017009228.2:c.3557G>A XP_016864717.1:p.Arg1186His
NM_001999.4:c.3710G>A MANE Select NP_001990.2:p.Arg1237His
Search 100 bp 5'
Search 100 bp 3'