Canonical Allele Identifier: CA2901445
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 652159
ClinVar RCV Id: RCV003103842 RCV003892726
dbSNP Id: rs772448418
ExAC: 4:41748019 CGCTGCCGCGGCCGCCGCCGCT / C
gnomAD v2: 4-41748019-CGCTGCCGCGGCCGCCGCCGCT-C
gnomAD v3: 4-41746002-CGCTGCCGCGGCCGCCGCCGCT-C
gnomAD v4: 4-41746002-CGCTGCCGCGGCCGCCGCCGCT-C
MyVariant Identifiers: chr4:g.41748020_41748040del (hg19) chr4:g.41746003_41746023del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746008_41746028del , CM000666.2:g.41746008_41746028del GRCh38
NC_000004.11:g.41748025_41748045del , CM000666.1:g.41748025_41748045del GRCh37
NC_000004.10:g.41442782_41442802del NCBI36
NG_008243.1:g.7948_7968del , LRG_513:g.7948_7968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.729_749del MANE Select ENSP00000226382.2:p.Ala244_Ala250del
ENST00000226382.3:c.729_749del ENSP00000226382.2:p.Ala244_Ala250del
NM_003924.3:c.729_749del , LRG_513t1:c.729_749del NP_003915.2:p.Ala244_Ala250del
NM_003924.4:c.729_749del MANE Select NP_003915.2:p.Ala244_Ala250del
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