Canonical Allele Identifier: CA2580071012
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1754911
ClinVar RCV Id: RCV002367073
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746082_41746084del , CM000666.2:g.41746082_41746084del GRCh38
NC_000004.11:g.41748099_41748101del , CM000666.1:g.41748099_41748101del GRCh37
NC_000004.10:g.41442856_41442858del NCBI36
NG_008243.1:g.7888_7890del , LRG_513:g.7888_7890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.669_671del MANE Select ENSP00000226382.2:p.Pro224del
ENST00000226382.3:c.669_671del ENSP00000226382.2:p.Pro224del
ENST00000510424.2:n.490_492del
NM_003924.3:c.669_671del , LRG_513t1:c.669_671del NP_003915.2:p.Pro224del
NM_003924.4:c.669_671del MANE Select NP_003915.2:p.Pro224del
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Search 100 bp 3'