Canonical Allele Identifier: CA2582342653
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2625352
ClinVar RCV Id: RCV003380111
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745984_41746010dup , CM000666.2:g.41745984_41746010dup GRCh38
NC_000004.11:g.41748001_41748027dup , CM000666.1:g.41748001_41748027dup GRCh37
NC_000004.10:g.41442758_41442784dup NCBI36
NG_008243.1:g.7966_7992dup , LRG_513:g.7966_7992dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.747_773dup MANE Select ENSP00000226382.2:p.Ala258_Ala259insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000226382.3:c.747_773dup ENSP00000226382.2:p.Ala258_Ala259insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.3:c.747_773dup , LRG_513t1:c.747_773dup NP_003915.2:p.Ala258_Ala259insAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_003924.4:c.747_773dup MANE Select NP_003915.2:p.Ala258_Ala259insAlaAlaAlaAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'