Canonical Allele Identifier: CA356738778
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2139957
ClinVar RCV Id: RCV003052869
MyVariant Identifiers: chr4:g.41748314T>C (hg19) chr4:g.41746297T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746297T>C , CM000666.2:g.41746297T>C GRCh38
NC_000004.11:g.41748314T>C , CM000666.1:g.41748314T>C GRCh37
NC_000004.10:g.41443071T>C NCBI36
NG_008243.1:g.7674A>G , LRG_513:g.7674A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.455A>G MANE Select ENSP00000226382.2:p.Lys152Arg
ENST00000226382.3:c.455A>G ENSP00000226382.2:p.Lys152Arg
ENST00000510424.2:n.276A>G
NM_003924.3:c.455A>G , LRG_513t1:c.455A>G NP_003915.2:p.Lys152Arg
NM_003924.4:c.455A>G MANE Select NP_003915.2:p.Lys152Arg
Search 100 bp 5'
Search 100 bp 3'