Canonical Allele Identifier: CA2901404
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs773785668
ExAC: 4:41747917 C / G
gnomAD v2: 4-41747917-C-G
gnomAD v3: 4-41745900-C-G
gnomAD v4: 4-41745900-C-G
MyVariant Identifiers: chr4:g.41747917C>G (hg19) chr4:g.41745900C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745900C>G , CM000666.2:g.41745900C>G GRCh38
NC_000004.11:g.41747917C>G , CM000666.1:g.41747917C>G GRCh37
NC_000004.10:g.41442674C>G NCBI36
NG_008243.1:g.8071G>C , LRG_513:g.8071G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.852G>C MANE Select ENSP00000226382.2:p.Pro284=
ENST00000226382.3:c.852G>C ENSP00000226382.2:p.Pro284=
NM_003924.3:c.852G>C , LRG_513t1:c.852G>C NP_003915.2:p.Pro284=
NM_003924.4:c.852G>C MANE Select NP_003915.2:p.Pro284=
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