Canonical Allele Identifier: CA127013871
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128335551C>T
GRCh37 chr5:g.127671243C>T
Revel Score:
ENST00000262464 (MANE Select) 0.895
ENST00000508053 0.895
ENST00000507835 0.895
ENST00000508989 0.895
gnomAD v2:
5:127671243 C / T
gnomAD v3:
5:128335551 C / T
gnomAD v4:
chr5-128335551-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV001056613
ClinVar Variation:
852068
dbSNP:
1018550681
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335551C>T , CM000667.2:g.128335551C>T GRCh38
NC_000005.9:g.127671243C>T , CM000667.1:g.127671243C>T GRCh37
NC_000005.8:g.127699142C>T NCBI36
NG_008750.1:g.207493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.535G>A
ENST00000703785.1:n.616G>A
ENST00000262464.9:c.3751G>A MANE Select ENSP00000262464.4:p.Gly1251Arg
ENST00000262464.8:c.3751G>A ENSP00000262464.4:p.Gly1251Arg
ENST00000507835.5:c.301G>A ENSP00000426839.1:p.Gly101Arg
ENST00000508053.5:c.3751G>A ENSP00000424571.1:p.Gly1251Arg
ENST00000508989.5:c.3652G>A ENSP00000425596.1:p.Gly1218Arg
ENST00000619499.4:c.3748G>A ENSP00000482132.1:p.Gly1250Arg
NM_001999.3:c.3751G>A NP_001990.2:p.Gly1251Arg
XM_017009228.2:c.3598G>A XP_016864717.1:p.Gly1200Arg
NM_001999.4:c.3751G>A MANE Select NP_001990.2:p.Gly1251Arg
Search 100 bp 5'
Search 100 bp 3'