Canonical Allele Identifier: CA356737344
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746051C>G , CM000666.2:g.41746051C>G GRCh38
NC_000004.11:g.41748068C>G , CM000666.1:g.41748068C>G GRCh37
NC_000004.10:g.41442825C>G NCBI36
NG_008243.1:g.7920G>C , LRG_513:g.7920G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.701G>C MANE Select ENSP00000226382.2:p.Gly234Ala
ENST00000226382.3:c.701G>C ENSP00000226382.2:p.Gly234Ala
ENST00000510424.2:n.522G>C
NM_003924.3:c.701G>C , LRG_513t1:c.701G>C NP_003915.2:p.Gly234Ala
NM_003924.4:c.701G>C MANE Select NP_003915.2:p.Gly234Ala