Canonical Allele Identifier: CA320612
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128393177C>G
GRCh37 chr5:g.127728870C>G
Revel Score:
ENST00000262464 (MANE Select) 0.524
ENST00000508053 0.524
ENST00000508989 0.524
gnomAD v2:
5:127728870 C / G
gnomAD v3:
5:128393177 C / G
gnomAD v4:
chr5-128393177-C-G
Joint Max Group AF 0.00005279 (AFR)
Genomes Max Group AF 0.0000325 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
ClinVar RCV:
RCV000196187
RCV001857718
ClinVar Variation:
213389
dbSNP:
200440156
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128393177C>G , CM000667.2:g.128393177C>G GRCh38
NC_000005.9:g.127728870C>G , CM000667.1:g.127728870C>G GRCh37
NC_000005.8:g.127756769C>G NCBI36
NG_008750.1:g.149866G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.1130G>C
ENST00000262464.9:c.1423G>C MANE Select ENSP00000262464.4:p.Gly475Arg
ENST00000262464.8:c.1423G>C ENSP00000262464.4:p.Gly475Arg
ENST00000508053.5:c.1423G>C ENSP00000424571.1:p.Gly475Arg
ENST00000508989.5:c.1324G>C ENSP00000425596.1:p.Gly442Arg
ENST00000619499.4:c.1420G>C ENSP00000482132.1:p.Gly474Arg
NM_001999.3:c.1423G>C NP_001990.2:p.Gly475Arg
XM_017009228.2:c.1270G>C XP_016864717.1:p.Gly424Arg
NM_001999.4:c.1423G>C MANE Select NP_001990.2:p.Gly475Arg
Search 100 bp 5'
Search 100 bp 3'