Canonical Allele Identifier: CA2901466

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 413923
• ClinVar RCV Id: RCV000564364 ; RCV000475781 ; RCV001591116 ; RCV003316588
• dbSNP Id: rs190973308
• ExAC: 4:41748127 G / A
• gnomAD v2: 4-41748127-G-A
• gnomAD v3: 4-41746110-G-A
• gnomAD v4: 4-41746110-G-A
• COSMIC: COSM4135784
• MyVariant Identifiers: chr4:g.41748127G>A (hg19) ; chr4:g.41746110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746110G>A , CM000666.2:g.41746110G>A	GRCh38
NC_000004.11:g.41748127G>A , CM000666.1:g.41748127G>A	GRCh37
NC_000004.10:g.41442884G>A	NCBI36
NG_008243.1:g.7861C>T , LRG_513:g.7861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.642C>T MANE Select	ENSP00000226382.2:p.Gly214=
ENST00000226382.3:c.642C>T	ENSP00000226382.2:p.Gly214=
ENST00000510424.2:n.463C>T
NM_003924.3:c.642C>T , LRG_513t1:c.642C>T	NP_003915.2:p.Gly214=
NM_003924.4:c.642C>T MANE Select	NP_003915.2:p.Gly214=