Canonical Allele Identifier: CA324848
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128464741C>T
GRCh37 chr5:g.127800434C>T
Revel Score:
ENST00000262464 (MANE Select) 0.688
ENST00000508053 0.688
ENST00000508989 0.688
ENST00000502468 0.688
gnomAD v2:
5:127800434 C / T
gnomAD v3:
5:128464741 C / T
gnomAD v4:
chr5-128464741-C-T
Joint Max Group AF 0.00074458 (AFR)
Genomes Max Group AF 0.00080931 (AFR)
Exomes Max Group AF 0.00051912 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128464741C>T , CM000667.2:g.128464741C>T GRCh38
NC_000005.9:g.127800434C>T , CM000667.1:g.127800434C>T GRCh37
NC_000005.8:g.127828333C>T NCBI36
NG_008750.1:g.78302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000508053.6:c.809G>A ENSP00000424571.2:p.Arg270His
ENST00000703787.1:n.516G>A
ENST00000262464.9:c.809G>A MANE Select ENSP00000262464.4:p.Arg270His
ENST00000262464.8:c.809G>A ENSP00000262464.4:p.Arg270His
ENST00000502468.5:c.809G>A ENSP00000424753.1:p.Arg270His
ENST00000508053.5:c.809G>A ENSP00000424571.1:p.Arg270His
ENST00000508989.5:c.710G>A ENSP00000425596.1:p.Arg237His
ENST00000514742.1:n.1429G>A
ENST00000619499.4:c.806G>A ENSP00000482132.1:p.Arg269His
ENST00000620257.1:c.807G>A ENSP00000479157.1:p.Pro269=
NM_001999.3:c.809G>A NP_001990.2:p.Arg270His
XM_017009228.2:c.809G>A XP_016864717.1:p.Arg270His
NM_001999.4:c.809G>A MANE Select NP_001990.2:p.Arg270His
Search 100 bp 5'
Search 100 bp 3'