Canonical Allele Identifier: CA3395142
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128335552G>A
GRCh37 chr5:g.127671244G>A
gnomAD v2:
5:127671244 G / A
gnomAD v3:
5:128335552 G / A
gnomAD v4:
chr5-128335552-G-A
Joint Max Group AF 0.00011838 (SAS)
Genomes Max Group AF 0.0000729 (SAS)
Exomes Max Group AF 0.00010711 (SAS)
ClinVar RCV:
RCV001720238
RCV003640894
ClinVar Variation:
385344
dbSNP:
750559514
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335552G>A , CM000667.2:g.128335552G>A GRCh38
NC_000005.9:g.127671244G>A , CM000667.1:g.127671244G>A GRCh37
NC_000005.8:g.127699143G>A NCBI36
NG_008750.1:g.207492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.534C>T
ENST00000703785.1:n.615C>T
ENST00000262464.9:c.3750C>T MANE Select ENSP00000262464.4:p.Asn1250=
ENST00000262464.8:c.3750C>T ENSP00000262464.4:p.Asn1250=
ENST00000507835.5:c.300C>T ENSP00000426839.1:p.Asn100=
ENST00000508053.5:c.3750C>T ENSP00000424571.1:p.Asn1250=
ENST00000508989.5:c.3651C>T ENSP00000425596.1:p.Asn1217=
ENST00000619499.4:c.3747C>T ENSP00000482132.1:p.Asn1249=
NM_001999.3:c.3750C>T NP_001990.2:p.Asn1250=
XM_017009228.2:c.3597C>T XP_016864717.1:p.Asn1199=
NM_001999.4:c.3750C>T MANE Select NP_001990.2:p.Asn1250=
Search 100 bp 5'
Search 100 bp 3'