Canonical Allele Identifier: CA356737086
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1376427
dbSNP Id: rs1355806826
gnomAD v2: 4-41747954-C-T
gnomAD v4: 4-41745937-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745937C>T , CM000666.2:g.41745937C>T GRCh38
NC_000004.11:g.41747954C>T , CM000666.1:g.41747954C>T GRCh37
NC_000004.10:g.41442711C>T NCBI36
NG_008243.1:g.8034G>A , LRG_513:g.8034G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.815G>A MANE Select ENSP00000226382.2:p.Gly272Asp
ENST00000226382.3:c.815G>A ENSP00000226382.2:p.Gly272Asp
NM_003924.3:c.815G>A , LRG_513t1:c.815G>A NP_003915.2:p.Gly272Asp
NM_003924.4:c.815G>A MANE Select NP_003915.2:p.Gly272Asp