Canonical Allele Identifier: CA356737109
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41747964G>C (hg19) chr4:g.41745947G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745947G>C , CM000666.2:g.41745947G>C GRCh38
NC_000004.11:g.41747964G>C , CM000666.1:g.41747964G>C GRCh37
NC_000004.10:g.41442721G>C NCBI36
NG_008243.1:g.8024C>G , LRG_513:g.8024C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.805C>G MANE Select ENSP00000226382.2:p.Pro269Ala
ENST00000226382.3:c.805C>G ENSP00000226382.2:p.Pro269Ala
NM_003924.3:c.805C>G , LRG_513t1:c.805C>G NP_003915.2:p.Pro269Ala
NM_003924.4:c.805C>G MANE Select NP_003915.2:p.Pro269Ala
Search 100 bp 5'
Search 100 bp 3'