Canonical Allele Identifier: CA2497074301
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1019912
ClinVar RCV Id: RCV001319416
dbSNP Id: rs1733869585
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745906_41745942del , CM000666.2:g.41745906_41745942del GRCh38
NC_000004.11:g.41747923_41747959del , CM000666.1:g.41747923_41747959del GRCh37
NC_000004.10:g.41442680_41442716del NCBI36
NG_008243.1:g.8030_8066del , LRG_513:g.8030_8066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.811_847del MANE Select ENSP00000226382.2:p.Gln271SerfsTer26
ENST00000226382.3:c.811_847del ENSP00000226382.2:p.Gln271SerfsTer26
NM_003924.3:c.811_847del , LRG_513t1:c.811_847del NP_003915.2:p.Gln271SerfsTer26
NM_003924.4:c.811_847del MANE Select NP_003915.2:p.Gln271SerfsTer26
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