Canonical Allele Identifier: CA3395166
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128336002C>A
GRCh37 chr5:g.127671694C>A
Revel Score:
ENST00000262464 (MANE Select) 0.696
ENST00000508053 0.696
ENST00000507835 0.696
ENST00000508989 0.696
gnomAD v2:
5:127671694 C / A
gnomAD v3:
5:128336002 C / A
gnomAD v4:
chr5-128336002-C-A
Joint Max Group AF 0.00003585 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003545 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.494G>T
ENST00000703785.1:n.575G>T
ENST00000262464.9:c.3710G>T MANE Select ENSP00000262464.4:p.Arg1237Leu
ENST00000262464.8:c.3710G>T ENSP00000262464.4:p.Arg1237Leu
ENST00000507835.5:c.260G>T ENSP00000426839.1:p.Arg87Leu
ENST00000508053.5:c.3710G>T ENSP00000424571.1:p.Arg1237Leu
ENST00000508989.5:c.3611G>T ENSP00000425596.1:p.Arg1204Leu
ENST00000619499.4:c.3707G>T ENSP00000482132.1:p.Arg1236Leu
NM_001999.3:c.3710G>T NP_001990.2:p.Arg1237Leu
XM_017009228.2:c.3557G>T XP_016864717.1:p.Arg1186Leu
NM_001999.4:c.3710G>T MANE Select NP_001990.2:p.Arg1237Leu
Search 100 bp 5'
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