Canonical Allele Identifier: CA2901437
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs754725361
ExAC: 4:41748004 CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT / C
gnomAD v2: 4-41748004-CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT-C
gnomAD v3: 4-41745987-CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT-C
gnomAD v4: 4-41745987-CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT-C
MyVariant Identifiers: chr4:g.41748005_41748043del (hg19) chr4:g.41745988_41746026del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745993_41746031del , CM000666.2:g.41745993_41746031del GRCh38
NC_000004.11:g.41748010_41748048del , CM000666.1:g.41748010_41748048del GRCh37
NC_000004.10:g.41442767_41442805del NCBI36
NG_008243.1:g.7945_7983del , LRG_513:g.7945_7983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.726_764del MANE Select ENSP00000226382.2:p.Ala243_Ala255del
ENST00000226382.3:c.726_764del ENSP00000226382.2:p.Ala243_Ala255del
NM_003924.3:c.726_764del , LRG_513t1:c.726_764del NP_003915.2:p.Ala243_Ala255del
NM_003924.4:c.726_764del MANE Select NP_003915.2:p.Ala243_Ala255del
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