Canonical Allele Identifier: CA288841
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129052
ClinVar RCV Id: RCV000117033 RCV000226482 RCV000757282 RCV002277174 RCV002310671
dbSNP Id: rs34119447
ExAC: 5:127599155 G / A
gnomAD v2: 5-127599155-G-A
gnomAD v3: 5-128263463-G-A
gnomAD v4: 5-128263463-G-A
MyVariant Identifiers: chr5:g.127599155G>A (hg19) chr5:g.128263463G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128263463G>A , CM000667.2:g.128263463G>A GRCh38
NC_000005.9:g.127599155G>A , CM000667.1:g.127599155G>A GRCh37
NC_000005.8:g.127627054G>A NCBI36
NG_008750.1:g.279581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703782.1:n.269C>T
ENST00000262464.9:c.8154C>T MANE Select ENSP00000262464.4:p.Leu2718=
ENST00000262464.8:c.8154C>T ENSP00000262464.4:p.Leu2718=
ENST00000508053.5:c.8154C>T ENSP00000424571.1:p.Leu2718=
ENST00000619499.4:c.8151C>T ENSP00000482132.1:p.Leu2717=
NM_001999.3:c.8154C>T NP_001990.2:p.Leu2718=
XM_017009228.2:c.8001C>T XP_016864717.1:p.Leu2667=
NM_001999.4:c.8154C>T MANE Select NP_001990.2:p.Leu2718=
Search 100 bp 5'
Search 100 bp 3'