Canonical Allele Identifier: CA290884
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 137339
ClinVar RCV Id: RCV000125060 RCV000659625 RCV000625169 RCV001812042 RCV002492465
dbSNP Id: rs183524866
ExAC: 5:127644920 G / A
gnomAD v2: 5-127644920-G-A
gnomAD v3: 5-128309228-G-A
gnomAD v4: 5-128309228-G-A
MyVariant Identifiers: chr5:g.127644920G>A (hg19) chr5:g.128309228G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128309228G>A , CM000667.2:g.128309228G>A GRCh38
NC_000005.9:g.127644920G>A , CM000667.1:g.127644920G>A GRCh37
NC_000005.8:g.127672819G>A NCBI36
NG_008750.1:g.233816C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2137+19C>T
ENST00000703785.1:n.2056+19C>T
ENST00000262464.9:c.5353+19C>T MANE Select ENSP00000262464.4:n.5353+19C>T
ENST00000262464.8:c.5353+19C>T ENSP00000262464.4:n.5353+19C>T
ENST00000508053.5:c.5353+19C>T ENSP00000424571.1:n.5353+19C>T
ENST00000619499.4:c.5350+19C>T ENSP00000482132.1:n.5350+19C>T
NM_001999.3:c.5353+19C>T NP_001990.2:n.5353+19C>T
XM_017009228.2:c.5200+19C>T XP_016864717.1:n.5200+19C>T
NM_001999.4:c.5353+19C>T MANE Select NP_001990.2:n.5353+19C>T
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