Canonical Allele Identifier: CA2901449
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1667193
ClinVar RCV Id: RCV002188817 RCV002382464
dbSNP Id: rs758533453
ExAC: 4:41748025 C / T
gnomAD v2: 4-41748025-C-T
gnomAD v3: 4-41746008-C-T
gnomAD v4: 4-41746008-C-T
COSMIC: COSM4655340
MyVariant Identifiers: chr4:g.41748025C>T (hg19) chr4:g.41748025_41748046delinsTGCGGCCGCCGCCGCTGCTGCT (hg19) chr4:g.41746008C>T (hg38) chr4:g.41746008_41746029delinsTGCGGCCGCCGCCGCTGCTGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746008C>T , CM000666.2:g.41746008C>T GRCh38
NC_000004.11:g.41748025C>T , CM000666.1:g.41748025C>T GRCh37
NC_000004.10:g.41442782C>T NCBI36
NG_008243.1:g.7963G>A , LRG_513:g.7963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.744G>A MANE Select ENSP00000226382.2:p.Ala248=
ENST00000226382.3:c.744G>A ENSP00000226382.2:p.Ala248=
NM_003924.3:c.744G>A , LRG_513t1:c.744G>A NP_003915.2:p.Ala248=
NM_003924.4:c.744G>A MANE Select NP_003915.2:p.Ala248=
Search 100 bp 5'
Search 100 bp 3'