Canonical Allele Identifier: CA2573137673

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1550996
• ClinVar RCV Id: RCV002192120
• dbSNP Id: rs2153112824

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746337A>C , CM000666.2:g.41746337A>C	GRCh38
NC_000004.11:g.41748354A>C , CM000666.1:g.41748354A>C	GRCh37
NC_000004.10:g.41443111A>C	NCBI36
NG_008243.1:g.7634T>G , LRG_513:g.7634T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.430-15T>G MANE Select	ENSP00000226382.2:n.430-15T>G
ENST00000226382.3:c.430-15T>G	ENSP00000226382.2:n.430-15T>G
ENST00000510424.2:n.251-15T>G
NM_003924.3:c.430-15T>G , LRG_513t1:c.430-15T>G	NP_003915.2:n.430-15T>G
NM_003924.4:c.430-15T>G MANE Select	NP_003915.2:n.430-15T>G