Canonical Allele Identifier: CA95828436
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs543135182
gnomAD v2: 4-41748004-C-T
gnomAD v4: 4-41745987-C-T
MyVariant Identifiers: chr4:g.41748004C>T (hg19) chr4:g.41748004_41748043delinsTGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT (hg19) chr4:g.41745987C>T (hg38) chr4:g.41745987_41746026delinsTGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745987C>T , CM000666.2:g.41745987C>T GRCh38
NC_000004.11:g.41748004C>T , CM000666.1:g.41748004C>T GRCh37
NC_000004.10:g.41442761C>T NCBI36
NG_008243.1:g.7984G>A , LRG_513:g.7984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.765G>A MANE Select ENSP00000226382.2:p.Ala255=
ENST00000226382.3:c.765G>A ENSP00000226382.2:p.Ala255=
NM_003924.3:c.765G>A , LRG_513t1:c.765G>A NP_003915.2:p.Ala255=
NM_003924.4:c.765G>A MANE Select NP_003915.2:p.Ala255=
Search 100 bp 5'
Search 100 bp 3'