Canonical Allele Identifier: CA645526523
Gene: PHOX2B HGNC NCBI

Linked Data

COSMIC: COSM1745539
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746262dup , CM000666.2:g.41746262dup GRCh38
NC_000004.11:g.41748279dup , CM000666.1:g.41748279dup GRCh37
NC_000004.10:g.41443036dup NCBI36
NG_008243.1:g.7709dup , LRG_513:g.7709dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.490dup MANE Select ENSP00000226382.2:p.Ala164GlyfsTer14
ENST00000226382.3:c.490dup ENSP00000226382.2:p.Ala164GlyfsTer14
ENST00000510424.2:n.311dup
NM_003924.3:c.490dup , LRG_513t1:c.490dup NP_003915.2:p.Ala164GlyfsTer14
NM_003924.4:c.490dup MANE Select NP_003915.2:p.Ala164GlyfsTer14
Search 100 bp 5'
Search 100 bp 3'