Canonical Allele Identifier: CA322231
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128335497T>C
GRCh37 chr5:g.127671189T>C
Revel Score:
ENST00000262464 (MANE Select) 0.307
ENST00000508053 0.307
ENST00000507835 0.307
ENST00000508989 0.307
gnomAD v2:
5:127671189 T / C
gnomAD v3:
5:128335497 T / C
gnomAD v4:
chr5-128335497-T-C
Joint Max Group AF 0.00003774 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00003631 (NFE)
ClinVar Allele:
209757
ClinVar RCV:
RCV000197758
RCV000531948
RCV002363007
ClinVar Variation:
213401
dbSNP:
765649978
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335497T>C , CM000667.2:g.128335497T>C GRCh38
NC_000005.9:g.127671189T>C , CM000667.1:g.127671189T>C GRCh37
NC_000005.8:g.127699088T>C NCBI36
NG_008750.1:g.207547A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.589A>G
ENST00000703785.1:n.670A>G
ENST00000262464.9:c.3805A>G MANE Select ENSP00000262464.4:p.Ser1269Gly
ENST00000262464.8:c.3805A>G ENSP00000262464.4:p.Ser1269Gly
ENST00000507835.5:c.355A>G ENSP00000426839.1:p.Ser119Gly
ENST00000508053.5:c.3805A>G ENSP00000424571.1:p.Ser1269Gly
ENST00000508989.5:c.3706A>G ENSP00000425596.1:p.Ser1236Gly
ENST00000619499.4:c.3802A>G ENSP00000482132.1:p.Ser1268Gly
NM_001999.3:c.3805A>G NP_001990.2:p.Ser1269Gly
XM_017009228.2:c.3652A>G XP_016864717.1:p.Ser1218Gly
NM_001999.4:c.3805A>G MANE Select NP_001990.2:p.Ser1269Gly
Search 100 bp 5'
Search 100 bp 3'