Canonical Allele Identifier: CA3395487
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2904365
ClinVar RCV Id: RCV003642110
dbSNP Id: rs750164133
ExAC: 5:127693003 C / T
gnomAD v2: 5-127693003-C-T
gnomAD v4: 5-128357311-C-T
MyVariant Identifiers: chr5:g.127693003C>T (hg19) chr5:g.128357311C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357311C>T , CM000667.2:g.128357311C>T GRCh38
NC_000005.9:g.127693003C>T , CM000667.1:g.127693003C>T GRCh37
NC_000005.8:g.127720902C>T NCBI36
NG_008750.1:g.185733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2639G>A MANE Select ENSP00000262464.4:p.Gly880Asp
ENST00000262464.8:c.2639G>A ENSP00000262464.4:p.Gly880Asp
ENST00000508053.5:c.2639G>A ENSP00000424571.1:p.Gly880Asp
ENST00000508989.5:c.2540G>A ENSP00000425596.1:p.Gly847Asp
ENST00000619499.4:c.2636G>A ENSP00000482132.1:p.Gly879Asp
NM_001999.3:c.2639G>A NP_001990.2:p.Gly880Asp
XM_017009228.2:c.2486G>A XP_016864717.1:p.Gly829Asp
NM_001999.4:c.2639G>A MANE Select NP_001990.2:p.Gly880Asp
Search 100 bp 5'
Search 100 bp 3'