Canonical Allele Identifier: CA2901595
Gene: PHOX2B HGNC NCBI
PHOX2B-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239587
ClinVar RCV Id: RCV000250345 RCV000573371 RCV000590552 RCV001080799 RCV001149517 RCV001507144
dbSNP Id: rs73810366
ExAC: 4:41750394 G / A
gnomAD v2: 4-41750394-G-A
gnomAD v3: 4-41748377-G-A
gnomAD v4: 4-41748377-G-A
COSMIC: COSM1429725
MyVariant Identifiers: chr4:g.41750394G>A (hg19) chr4:g.41748377G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41748377G>A , CM000666.2:g.41748377G>A GRCh38
NC_000004.11:g.41750394G>A , CM000666.1:g.41750394G>A GRCh37
NC_000004.10:g.41445151G>A NCBI36
NG_008243.1:g.5594C>T , LRG_513:g.5594C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000226382.4:c.234C>T (PHOX2B) MANE Select ENSP00000226382.2:p.Tyr78=
ENST00000226382.3:c.234C>T (PHOX2B) ENSP00000226382.2:p.Tyr78=
NM_003924.3:c.234C>T , LRG_513t1:c.234C>T (PHOX2B) NP_003915.2:p.Tyr78=
XR_001741668.1:n.85G>A (PHOX2B-AS1)
XR_001741669.1:n.85G>A (PHOX2B-AS1)
XR_001741670.1:n.85G>A (PHOX2B-AS1)
XR_001741671.1:n.85G>A (PHOX2B-AS1)
XR_925256.2:n.85G>A (PHOX2B-AS1)
NM_003924.4:c.234C>T (PHOX2B) MANE Select NP_003915.2:p.Tyr78=
Search 100 bp 5'
Search 100 bp 3'