Canonical Allele Identifier: CA322990
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213249
ClinVar RCV Id: RCV000198481 RCV000458508 RCV001579866 RCV002277511
dbSNP Id: rs199735209
ExAC: 5:127622403 C / T
gnomAD v2: 5-127622403-C-T
gnomAD v3: 5-128286711-C-T
gnomAD v4: 5-128286711-C-T
MyVariant Identifiers: chr5:g.127622403C>T (hg19) chr5:g.128286711C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128286711C>T , CM000667.2:g.128286711C>T GRCh38
NC_000005.9:g.127622403C>T , CM000667.1:g.127622403C>T GRCh37
NC_000005.8:g.127650302C>T NCBI36
NG_008750.1:g.256333G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.3796+7G>A
ENST00000262464.9:c.7012+7G>A MANE Select ENSP00000262464.4:n.7012+7G>A
ENST00000262464.8:c.7012+7G>A ENSP00000262464.4:n.7012+7G>A
ENST00000508053.5:c.7012+7G>A ENSP00000424571.1:n.7012+7G>A
ENST00000619499.4:c.7009+7G>A ENSP00000482132.1:n.7009+7G>A
NM_001999.3:c.7012+7G>A NP_001990.2:n.7012+7G>A
XM_017009228.2:c.6859+7G>A XP_016864717.1:n.6859+7G>A
NM_001999.4:c.7012+7G>A MANE Select NP_001990.2:n.7012+7G>A
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