Canonical Allele Identifier: CA2497074308
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1733881439
gnomAD v4: 4-41746011-G-GGCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746020_41746022dup , CM000666.2:g.41746020_41746022dup GRCh38
NC_000004.11:g.41748037_41748039dup , CM000666.1:g.41748037_41748039dup GRCh37
NC_000004.10:g.41442794_41442796dup NCBI36
NG_008243.1:g.7957_7959dup , LRG_513:g.7957_7959dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.738_740dup MANE Select ENSP00000226382.2:p.Ala247_Ala248insAla
ENST00000226382.3:c.738_740dup ENSP00000226382.2:p.Ala247_Ala248insAla
NM_003924.3:c.738_740dup , LRG_513t1:c.738_740dup NP_003915.2:p.Ala247_Ala248insAla
NM_003924.4:c.738_740dup MANE Select NP_003915.2:p.Ala247_Ala248insAla
Search 100 bp 5'
Search 100 bp 3'