Canonical Allele Identifier: CA2497074311
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1019594
ClinVar RCV Id: RCV001319050
dbSNP Id: rs1733896798
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746257_41746262dup , CM000666.2:g.41746257_41746262dup GRCh38
NC_000004.11:g.41748274_41748279dup , CM000666.1:g.41748274_41748279dup GRCh37
NC_000004.10:g.41443031_41443036dup NCBI36
NG_008243.1:g.7715_7720dup , LRG_513:g.7715_7720dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.496_501dup MANE Select ENSP00000226382.2:p.Ala167_Lys168insAlaAla
ENST00000226382.3:c.496_501dup ENSP00000226382.2:p.Ala167_Lys168insAlaAla
ENST00000510424.2:n.317_322dup
NM_003924.3:c.496_501dup , LRG_513t1:c.496_501dup NP_003915.2:p.Ala167_Lys168insAlaAla
NM_003924.4:c.496_501dup MANE Select NP_003915.2:p.Ala167_Lys168insAlaAla
Search 100 bp 5'
Search 100 bp 3'