Canonical Allele Identifier: CA2901484
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 486036
dbSNP Id: rs775931264
gnomAD v2: 4-41748261-C-G
gnomAD v4: 4-41746244-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746244C>G , CM000666.2:g.41746244C>G GRCh38
NC_000004.11:g.41748261C>G , CM000666.1:g.41748261C>G GRCh37
NC_000004.10:g.41443018C>G NCBI36
NG_008243.1:g.7727G>C , LRG_513:g.7727G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.508G>C MANE Select ENSP00000226382.2:p.Gly170Arg
ENST00000226382.3:c.508G>C ENSP00000226382.2:p.Gly170Arg
ENST00000510424.2:n.329G>C
NM_003924.3:c.508G>C , LRG_513t1:c.508G>C NP_003915.2:p.Gly170Arg
NM_003924.4:c.508G>C MANE Select NP_003915.2:p.Gly170Arg