Canonical Allele Identifier: CA2499217213
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1127647
ClinVar RCV Id: RCV001460151
dbSNP Id: rs1577559429
gnomAD v4: 4-41746330-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746330A>G , CM000666.2:g.41746330A>G GRCh38
NC_000004.11:g.41748347A>G , CM000666.1:g.41748347A>G GRCh37
NC_000004.10:g.41443104A>G NCBI36
NG_008243.1:g.7641T>C , LRG_513:g.7641T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.430-8T>C MANE Select ENSP00000226382.2:n.430-8T>C
ENST00000226382.3:c.430-8T>C ENSP00000226382.2:n.430-8T>C
ENST00000510424.2:n.251-8T>C
NM_003924.3:c.430-8T>C , LRG_513t1:c.430-8T>C NP_003915.2:n.430-8T>C
NM_003924.4:c.430-8T>C MANE Select NP_003915.2:n.430-8T>C
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