Canonical Allele Identifier: CA2573052328
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1323445
ClinVar RCV Id: RCV001784828
dbSNP Id: rs1560465524
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745981_41746010dup , CM000666.2:g.41745981_41746010dup GRCh38
NC_000004.11:g.41747998_41748027dup , CM000666.1:g.41747998_41748027dup GRCh37
NC_000004.10:g.41442755_41442784dup NCBI36
NG_008243.1:g.7969_7998dup , LRG_513:g.7969_7998dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.750_779dup MANE Select ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000226382.3:c.750_779dup ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.3:c.750_779dup , LRG_513t1:c.750_779dup NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_003924.4:c.750_779dup MANE Select NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'