Canonical Allele Identifier: CA2580071005
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1757728
ClinVar RCV Id: RCV002370922
dbSNP Id: rs1733878065
gnomAD v3: 4-41745992-C-CCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCTGCTG
gnomAD v4: 4-41745992-C-CCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCTGCTG
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746000_41746037dup , CM000666.2:g.41746000_41746037dup GRCh38
NC_000004.11:g.41748017_41748054dup , CM000666.1:g.41748017_41748054dup GRCh37
NC_000004.10:g.41442774_41442811dup NCBI36
NG_008243.1:g.7941_7978dup , LRG_513:g.7941_7978dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.722_759dup MANE Select ENSP00000226382.2:p.Ala254GlnfsTer?
ENST00000226382.3:c.722_759dup ENSP00000226382.2:p.Ala254GlnfsTer?
NM_003924.3:c.722_759dup , LRG_513t1:c.722_759dup NP_003915.2:p.Ala254GlnfsTer?
NM_003924.4:c.722_759dup MANE Select NP_003915.2:p.Ala254GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'