Canonical Allele Identifier: CA2901439
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467740
ClinVar RCV Id: RCV000560548
dbSNP Id: rs749694204
ExAC: 4:41748007 TGCCGCCGCCGCCGCTGCCGCGGCCGCC / T
gnomAD v2: 4-41748007-TGCCGCCGCCGCCGCTGCCGCGGCCGCC-T
gnomAD v3: 4-41745990-TGCCGCCGCCGCCGCTGCCGCGGCCGCC-T
gnomAD v4: 4-41745990-TGCCGCCGCCGCCGCTGCCGCGGCCGCC-T
MyVariant Identifiers: chr4:g.41748008_41748034del (hg19) chr4:g.41745991_41746017del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745996_41746022del , CM000666.2:g.41745996_41746022del GRCh38
NC_000004.11:g.41748013_41748039del , CM000666.1:g.41748013_41748039del GRCh37
NC_000004.10:g.41442770_41442796del NCBI36
NG_008243.1:g.7954_7980del , LRG_513:g.7954_7980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.735_761del MANE Select ENSP00000226382.2:p.Ala246_Ala254del
ENST00000226382.3:c.735_761del ENSP00000226382.2:p.Ala246_Ala254del
NM_003924.3:c.735_761del , LRG_513t1:c.735_761del NP_003915.2:p.Ala246_Ala254del
NM_003924.4:c.735_761del MANE Select NP_003915.2:p.Ala246_Ala254del
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