Canonical Allele Identifier: CA3395207
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128338084C>T
GRCh37 chr5:g.127673776C>T
Revel Score:
ENST00000262464 (MANE Select) 0.798
ENST00000508053 0.798
ENST00000507835 0.798
ENST00000508989 0.798
gnomAD v2:
5:127673776 C / T
gnomAD v3:
5:128338084 C / T
gnomAD v4:
chr5-128338084-C-T
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.00002262 (AMR)
ClinVar RCV:
RCV000525560
RCV003231526
ClinVar Variation:
458760
dbSNP:
775844150
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338084C>T , CM000667.2:g.128338084C>T GRCh38
NC_000005.9:g.127673776C>T , CM000667.1:g.127673776C>T GRCh37
NC_000005.8:g.127701675C>T NCBI36
NG_008750.1:g.204960G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.295G>A
ENST00000703785.1:n.376G>A
ENST00000262464.9:c.3511G>A MANE Select ENSP00000262464.4:p.Gly1171Ser
ENST00000262464.8:c.3511G>A ENSP00000262464.4:p.Gly1171Ser
ENST00000507835.5:c.61G>A ENSP00000426839.1:p.Gly21Ser
ENST00000508053.5:c.3511G>A ENSP00000424571.1:p.Gly1171Ser
ENST00000508989.5:c.3412G>A ENSP00000425596.1:p.Gly1138Ser
ENST00000619499.4:c.3508G>A ENSP00000482132.1:p.Gly1170Ser
NM_001999.3:c.3511G>A NP_001990.2:p.Gly1171Ser
XM_017009228.2:c.3358G>A XP_016864717.1:p.Gly1120Ser
NM_001999.4:c.3511G>A MANE Select NP_001990.2:p.Gly1171Ser
Search 100 bp 5'
Search 100 bp 3'