Canonical Allele Identifier: CA10618982
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 350754
ClinVar RCV Id: RCV000357543 RCV001569531
dbSNP Id: rs199925656
gnomAD v2: 5-127595045-GTTA-G
gnomAD v3: 5-128259353-GTTA-G
gnomAD v4: 5-128259353-GTTA-G
COSMIC: COSN20101781
MyVariant Identifiers: chr5:g.127595046_127595048del (hg19) chr5:g.128259354_128259356del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128259362_128259364del , CM000667.2:g.128259362_128259364del GRCh38
NC_000005.9:g.127595054_127595056del , CM000667.1:g.127595054_127595056del GRCh37
NC_000005.8:g.127622953_127622955del NCBI36
NG_008750.1:g.283688_283690del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.*99_*101del MANE Select ENSP00000262464.4:n.*99_*101del
ENST00000262464.8:c.*99_*101del ENSP00000262464.4:n.*99_*101del
ENST00000508053.5:c.*99_*101del ENSP00000424571.1:n.*99_*101del
ENST00000619499.4:c.8835_8837del ENSP00000482132.1:n.8835_8837del
NM_001999.3:c.*99_*101del NP_001990.2:n.*99_*101del
XM_017009228.2:c.*99_*101del XP_016864717.1:n.*99_*101del
NM_001999.4:c.*99_*101del MANE Select NP_001990.2:n.*99_*101del
Search 100 bp 5'
Search 100 bp 3'