Canonical Allele Identifier: CA324379
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213382
ClinVar RCV Id: RCV000199832
dbSNP Id: rs863223593
gnomAD v3: 5-128393249-A-AGCCATT
gnomAD v4: 5-128393249-A-AGCCATT
MyVariant Identifiers: chr5:g.127728943_127728948dupGCCATT (hg19) chr5:g.127728942_127728943insGCCATT (hg19) chr5:g.128393250_128393255dupGCCATT (hg38) chr5:g.128393249_128393250insGCCATT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128393260_128393265dup , CM000667.2:g.128393260_128393265dup GRCh38
NC_000005.9:g.127728953_127728958dup , CM000667.1:g.127728953_127728958dup GRCh37
NC_000005.8:g.127756852_127756857dup NCBI36
NG_008750.1:g.149788_149793dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.1052_1057dup
ENST00000262464.9:c.1345_1350dup MANE Select ENSP00000262464.4:p.Gly450_Tyr451insAsnGly
ENST00000262464.8:c.1345_1350dup ENSP00000262464.4:p.Gly450_Tyr451insAsnGly
ENST00000508053.5:c.1345_1350dup ENSP00000424571.1:p.Gly450_Tyr451insAsnGly
ENST00000508989.5:c.1246_1251dup ENSP00000425596.1:p.Gly417_Tyr418insAsnGly
ENST00000619499.4:c.1342_1347dup ENSP00000482132.1:p.Gly449_Tyr450insAsnGly
NM_001999.3:c.1345_1350dup NP_001990.2:p.Gly450_Tyr451insAsnGly
XM_017009228.2:c.1192_1197dup XP_016864717.1:p.Gly399_Tyr400insAsnGly
NM_001999.4:c.1345_1350dup MANE Select NP_001990.2:p.Gly450_Tyr451insAsnGly
Search 100 bp 5'
Search 100 bp 3'