Canonical Allele Identifier: CA562709593
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1201907
ClinVar RCV Id: RCV001567423
dbSNP Id: rs1283210701
gnomAD v2: 5-127640433-CGCAGTATGTCCCTGCTTGCAAATTTTATATATT-C
gnomAD v3: 5-128304741-CGCAGTATGTCCCTGCTTGCAAATTTTATATATT-C
gnomAD v4: 5-128304741-CGCAGTATGTCCCTGCTTGCAAATTTTATATATT-C
MyVariant Identifiers: chr5:g.127640434_127640466del (hg19) chr5:g.128304742_128304774del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304772_128304804del , CM000667.2:g.128304772_128304804del GRCh38
NC_000005.9:g.127640464_127640496del , CM000667.1:g.127640464_127640496del GRCh37
NC_000005.8:g.127668363_127668395del NCBI36
NG_008750.1:g.238270_238302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2584+183_2584+215del
ENST00000703785.1:n.2503+183_2503+215del
ENST00000262464.9:c.5800+183_5800+215del MANE Select ENSP00000262464.4:n.5800+183_5800+215del
ENST00000262464.8:c.5800+183_5800+215del ENSP00000262464.4:n.5800+183_5800+215del
ENST00000508053.5:c.5800+183_5800+215del ENSP00000424571.1:n.5800+183_5800+215del
ENST00000619499.4:c.5797+183_5797+215del ENSP00000482132.1:n.5797+183_5797+215del
NM_001999.3:c.5800+183_5800+215del NP_001990.2:n.5800+183_5800+215del
XM_017009228.2:c.5647+183_5647+215del XP_016864717.1:n.5647+183_5647+215del
NM_001999.4:c.5800+183_5800+215del MANE Select NP_001990.2:n.5800+183_5800+215del
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