Canonical Allele Identifier: CA356738086
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746194C>G , CM000666.2:g.41746194C>G GRCh38
NC_000004.11:g.41748211C>G , CM000666.1:g.41748211C>G GRCh37
NC_000004.10:g.41442968C>G NCBI36
NG_008243.1:g.7777G>C , LRG_513:g.7777G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.558G>C MANE Select ENSP00000226382.2:p.Glu186Asp
ENST00000226382.3:c.558G>C ENSP00000226382.2:p.Glu186Asp
ENST00000510424.2:n.379G>C
NM_003924.3:c.558G>C , LRG_513t1:c.558G>C NP_003915.2:p.Glu186Asp
NM_003924.4:c.558G>C MANE Select NP_003915.2:p.Glu186Asp