Canonical Allele Identifier: CA3393900
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384800
ClinVar RCV Id: RCV000418958 RCV001345022
dbSNP Id: rs752575354
ExAC: 5:127599111 C / T
gnomAD v2: 5-127599111-C-T
gnomAD v3: 5-128263419-C-T
gnomAD v4: 5-128263419-C-T
COSMIC: COSM5960878 COSM5960879
MyVariant Identifiers: chr5:g.127599111C>T (hg19) chr5:g.128263419C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128263419C>T , CM000667.2:g.128263419C>T GRCh38
NC_000005.9:g.127599111C>T , CM000667.1:g.127599111C>T GRCh37
NC_000005.8:g.127627010C>T NCBI36
NG_008750.1:g.279625G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703782.1:n.313G>A
ENST00000262464.9:c.8192+6G>A MANE Select ENSP00000262464.4:n.8192+6G>A
ENST00000262464.8:c.8192+6G>A ENSP00000262464.4:n.8192+6G>A
ENST00000508053.5:c.8192+6G>A ENSP00000424571.1:n.8192+6G>A
ENST00000619499.4:c.8189+6G>A ENSP00000482132.1:n.8189+6G>A
NM_001999.3:c.8192+6G>A NP_001990.2:n.8192+6G>A
XM_017009228.2:c.8039+6G>A XP_016864717.1:n.8039+6G>A
NM_001999.4:c.8192+6G>A MANE Select NP_001990.2:n.8192+6G>A
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