Canonical Allele Identifier: CA2901570
Gene: PHOX2B HGNC NCBI
gnomAD v2:
4:41749672 CGA / C
gnomAD v3:
4:41747655 CGA / C
gnomAD v4:
chr4-41747655-CGA-C
Joint Max Group AF 0.00003315 (EAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003856 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41747661_41747662del , CM000666.2:g.41747661_41747662del GRCh38
NC_000004.11:g.41749678_41749679del , CM000666.1:g.41749678_41749679del GRCh37
NC_000004.10:g.41444435_41444436del NCBI36
NG_008243.1:g.6314_6315del , LRG_513:g.6314_6315del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.242-121_242-120del MANE Select ENSP00000226382.2:n.242-121_242-120del
ENST00000226382.3:c.242-121_242-120del ENSP00000226382.2:n.242-121_242-120del
ENST00000510424.2:n.53_54del
NM_003924.3:c.242-121_242-120del , LRG_513t1:c.242-121_242-120del NP_003915.2:n.242-121_242-120del
NM_003924.4:c.242-121_242-120del MANE Select NP_003915.2:n.242-121_242-120del
Search 100 bp 5'
Search 100 bp 3'