Canonical Allele Identifier: CA2901428
Gene: PHOX2B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.41745979G>T
GRCh37 chr4:g.41747996G>T
Revel Score:
ENST00000226382 (MANE Select) 0.327
gnomAD v2:
4:41747996 G / T
gnomAD v3:
4:41745979 G / T
gnomAD v4:
chr4-41745979-G-T
Joint Max Group AF 0.00042436 (AMR)
Genomes Max Group AF 0.00027349 (AMR)
Exomes Max Group AF 0.00043824 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745979G>T , CM000666.2:g.41745979G>T GRCh38
NC_000004.11:g.41747996G>T , CM000666.1:g.41747996G>T GRCh37
NC_000004.10:g.41442753G>T NCBI36
NG_008243.1:g.7992C>A , LRG_513:g.7992C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.773C>A MANE Select ENSP00000226382.2:p.Ala258Glu
ENST00000226382.3:c.773C>A ENSP00000226382.2:p.Ala258Glu
NM_003924.3:c.773C>A , LRG_513t1:c.773C>A NP_003915.2:p.Ala258Glu
NM_003924.4:c.773C>A MANE Select NP_003915.2:p.Ala258Glu
Search 100 bp 5'
Search 100 bp 3'