Canonical Allele Identifier: CA2695239079
Gene: PHOX2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745990_41746013del , CM000666.2:g.41745990_41746013del GRCh38
NC_000004.11:g.41748007_41748030del , CM000666.1:g.41748007_41748030del GRCh37
NC_000004.10:g.41442764_41442787del NCBI36
NG_008243.1:g.7960_7983del , LRG_513:g.7960_7983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741_764del MANE Select ENSP00000226382.2:p.Ala248_Ala255del
ENST00000226382.3:c.741_764del ENSP00000226382.2:p.Ala248_Ala255del
NM_003924.3:c.741_764del , LRG_513t1:c.741_764del NP_003915.2:p.Ala248_Ala255del
NM_003924.4:c.741_764del MANE Select NP_003915.2:p.Ala248_Ala255del
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