Canonical Allele Identifier: CA3395131
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128335462C>T
GRCh37 chr5:g.127671154C>T
gnomAD v2:
5:127671154 C / T
gnomAD v3:
5:128335462 C / T
gnomAD v4:
chr5-128335462-C-T
Joint Max Group AF 0.00003232 (AMR)
Genomes Max Group AF 0.00005283 (AMR)
Exomes Max Group AF 0.00000835 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335462C>T , CM000667.2:g.128335462C>T GRCh38
NC_000005.9:g.127671154C>T , CM000667.1:g.127671154C>T GRCh37
NC_000005.8:g.127699053C>T NCBI36
NG_008750.1:g.207582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.624G>A
ENST00000703785.1:n.705G>A
ENST00000262464.9:c.3840G>A MANE Select ENSP00000262464.4:p.Ser1280=
ENST00000262464.8:c.3840G>A ENSP00000262464.4:p.Ser1280=
ENST00000507835.5:c.390G>A ENSP00000426839.1:p.Ser130=
ENST00000508053.5:c.3840G>A ENSP00000424571.1:p.Ser1280=
ENST00000508989.5:c.3741G>A ENSP00000425596.1:p.Ser1247=
ENST00000619499.4:c.3837G>A ENSP00000482132.1:p.Ser1279=
NM_001999.3:c.3840G>A NP_001990.2:p.Ser1280=
XM_017009228.2:c.3687G>A XP_016864717.1:p.Ser1229=
NM_001999.4:c.3840G>A MANE Select NP_001990.2:p.Ser1280=
Search 100 bp 5'
Search 100 bp 3'