Canonical Allele Identifier: CA174026
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128338975C>T
GRCh37 chr5:g.127674667C>T
Revel Score:
ENST00000262464 (MANE Select) 0.670
ENST00000508053 0.670
ENST00000508989 0.670
gnomAD v2:
5:127674667 C / T
gnomAD v3:
5:128338975 C / T
gnomAD v4:
chr5-128338975-C-T
Joint Max Group AF 0.00008175 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00008396 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338975C>T , CM000667.2:g.128338975C>T GRCh38
NC_000005.9:g.127674667C>T , CM000667.1:g.127674667C>T GRCh37
NC_000005.8:g.127702566C>T NCBI36
NG_008750.1:g.204069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.214G>A
ENST00000703785.1:n.295G>A
ENST00000262464.9:c.3430G>A MANE Select ENSP00000262464.4:p.Glu1144Lys
ENST00000262464.8:c.3430G>A ENSP00000262464.4:p.Glu1144Lys
ENST00000507835.5:c.-21G>A ENSP00000426839.1:n.-21G>A
ENST00000508053.5:c.3430G>A ENSP00000424571.1:p.Glu1144Lys
ENST00000508989.5:c.3331G>A ENSP00000425596.1:p.Glu1111Lys
ENST00000619499.4:c.3427G>A ENSP00000482132.1:p.Glu1143Lys
NM_001999.3:c.3430G>A NP_001990.2:p.Glu1144Lys
XM_017009228.2:c.3277G>A XP_016864717.1:p.Glu1093Lys
NM_001999.4:c.3430G>A MANE Select NP_001990.2:p.Glu1144Lys
Search 100 bp 5'
Search 100 bp 3'