Canonical Allele Identifier: CA2670427133

Gene: PHOX2B

Linked Data

• gnomAD v4: 4-41745939-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745939_41745940insC , CM000666.2:g.41745939_41745940insC	GRCh38
NC_000004.11:g.41747956_41747957insC , CM000666.1:g.41747956_41747957insC	GRCh37
NC_000004.10:g.41442713_41442714insC	NCBI36
NG_008243.1:g.8031_8032insG , LRG_513:g.8031_8032insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.812_813insG MANE Select	ENSP00000226382.2:p.Gly272ArgfsTer?
ENST00000226382.3:c.812_813insG	ENSP00000226382.2:p.Gly272ArgfsTer?
NM_003924.3:c.812_813insG , LRG_513t1:c.812_813insG	NP_003915.2:p.Gly272ArgfsTer?
NM_003924.4:c.812_813insG MANE Select	NP_003915.2:p.Gly272ArgfsTer?