Canonical Allele Identifier: CA2580071002
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1758106
ClinVar RCV Id: RCV002382681
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745993_41746028dup , CM000666.2:g.41745993_41746028dup GRCh38
NC_000004.11:g.41748010_41748045dup , CM000666.1:g.41748010_41748045dup GRCh37
NC_000004.10:g.41442767_41442802dup NCBI36
NG_008243.1:g.7948_7983dup , LRG_513:g.7948_7983dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.729_764dup MANE Select ENSP00000226382.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000226382.3:c.729_764dup ENSP00000226382.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.3:c.729_764dup , LRG_513t1:c.729_764dup NP_003915.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.4:c.729_764dup MANE Select NP_003915.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
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