Canonical Allele Identifier: CA439142958
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1135887
ClinVar RCV Id: RCV001471342
dbSNP Id: rs2153112753
MyVariant Identifiers: chr4:g.41747971A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745954A>C , CM000666.2:g.41745954A>C GRCh38
NC_000004.11:g.41747971A>C , CM000666.1:g.41747971A>C GRCh37
NC_000004.10:g.41442728A>C NCBI36
NG_008243.1:g.8017T>G , LRG_513:g.8017T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.798T>G MANE Select ENSP00000226382.2:p.Ala266=
ENST00000226382.3:c.798T>G ENSP00000226382.2:p.Ala266=
NM_003924.3:c.798T>G , LRG_513t1:c.798T>G NP_003915.2:p.Ala266=
NM_003924.4:c.798T>G MANE Select NP_003915.2:p.Ala266=
Search 100 bp 5'
Search 100 bp 3'