Canonical Allele Identifier: CA2901421
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467746
ClinVar RCV Id: RCV000526554 RCV001312215 RCV000561955
dbSNP Id: rs768420488
ExAC: 4:41747984 C / A
gnomAD v2: 4-41747984-C-A
gnomAD v3: 4-41745967-C-A
gnomAD v4: 4-41745967-C-A
MyVariant Identifiers: chr4:g.41747984C>A (hg19) chr4:g.41745967C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745967C>A , CM000666.2:g.41745967C>A GRCh38
NC_000004.11:g.41747984C>A , CM000666.1:g.41747984C>A GRCh37
NC_000004.10:g.41442741C>A NCBI36
NG_008243.1:g.8004G>T , LRG_513:g.8004G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.785G>T MANE Select ENSP00000226382.2:p.Gly262Val
ENST00000226382.3:c.785G>T ENSP00000226382.2:p.Gly262Val
NM_003924.3:c.785G>T , LRG_513t1:c.785G>T NP_003915.2:p.Gly262Val
NM_003924.4:c.785G>T MANE Select NP_003915.2:p.Gly262Val
Search 100 bp 5'
Search 100 bp 3'