Canonical Allele Identifier: CA3394517
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs769395976
ExAC: 5:127637024 AT / A
gnomAD v2: 5-127637024-AT-A
gnomAD v3: 5-128301332-AT-A
gnomAD v4: 5-128301332-AT-A
MyVariant Identifiers: chr5:g.127637025del (hg19) chr5:g.128301333del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301336del , CM000667.2:g.128301336del GRCh38
NC_000005.9:g.127637028del , CM000667.1:g.127637028del GRCh37
NC_000005.8:g.127664927del NCBI36
NG_008750.1:g.241711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2830+49del
ENST00000703785.1:n.2749+49del
ENST00000262464.9:c.6046+49del MANE Select ENSP00000262464.4:n.6046+49del
ENST00000262464.8:c.6046+49del ENSP00000262464.4:n.6046+49del
ENST00000508053.5:c.6046+49del ENSP00000424571.1:n.6046+49del
ENST00000619499.4:c.6043+49del ENSP00000482132.1:n.6043+49del
NM_001999.3:c.6046+49del NP_001990.2:n.6046+49del
XM_017009228.2:c.5893+49del XP_016864717.1:n.5893+49del
NM_001999.4:c.6046+49del MANE Select NP_001990.2:n.6046+49del
Search 100 bp 5'
Search 100 bp 3'