Canonical Allele Identifier: CA2901468

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 239588
• ClinVar RCV Id: RCV000227589 ; RCV000295449 ; RCV000608879 ; RCV000574763 ; RCV001450090 ; RCV003437019
• dbSNP Id: rs17879258
• ExAC: 4:41748130 G / C
• gnomAD v2: 4-41748130-G-C
• gnomAD v3: 4-41746113-G-C
• gnomAD v4: 4-41746113-G-C
• MyVariant Identifiers: chr4:g.41748130G>C (hg19) ; chr4:g.41746113G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746113G>C , CM000666.2:g.41746113G>C	GRCh38
NC_000004.11:g.41748130G>C , CM000666.1:g.41748130G>C	GRCh37
NC_000004.10:g.41442887G>C	NCBI36
NG_008243.1:g.7858C>G , LRG_513:g.7858C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.639C>G MANE Select	ENSP00000226382.2:p.Gly213=
ENST00000226382.3:c.639C>G	ENSP00000226382.2:p.Gly213=
ENST00000510424.2:n.460C>G
NM_003924.3:c.639C>G , LRG_513t1:c.639C>G	NP_003915.2:p.Gly213=
NM_003924.4:c.639C>G MANE Select	NP_003915.2:p.Gly213=