Canonical Allele Identifier: CA127008422
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128335224G>A
GRCh37 chr5:g.127670916G>A
Revel Score:
ENST00000262464 (MANE Select) 0.867
ENST00000508053 0.867
ENST00000507835 0.867
ENST00000508989 0.867
gnomAD v2:
5:127670916 G / A
gnomAD v3:
5:128335224 G / A
gnomAD v4:
chr5-128335224-G-A
Joint Max Group AF 0.00001063 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335224G>A , CM000667.2:g.128335224G>A GRCh38
NC_000005.9:g.127670916G>A , CM000667.1:g.127670916G>A GRCh37
NC_000005.8:g.127698815G>A NCBI36
NG_008750.1:g.207820C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.703C>T
ENST00000703785.1:n.784C>T
ENST00000262464.9:c.3919C>T MANE Select ENSP00000262464.4:p.Arg1307Cys
ENST00000262464.8:c.3919C>T ENSP00000262464.4:p.Arg1307Cys
ENST00000507835.5:c.469C>T ENSP00000426839.1:p.Arg157Cys
ENST00000508053.5:c.3919C>T ENSP00000424571.1:p.Arg1307Cys
ENST00000508989.5:c.3820C>T ENSP00000425596.1:p.Arg1274Cys
ENST00000619499.4:c.3916C>T ENSP00000482132.1:p.Arg1306Cys
NM_001999.3:c.3919C>T NP_001990.2:p.Arg1307Cys
XM_017009228.2:c.3766C>T XP_016864717.1:p.Arg1256Cys
NM_001999.4:c.3919C>T MANE Select NP_001990.2:p.Arg1307Cys
Search 100 bp 5'
Search 100 bp 3'