Canonical Allele Identifier: CA2676572740
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174724695-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724698del , CM000667.2:g.174724698del GRCh38
NC_000005.9:g.174151701del , CM000667.1:g.174151701del GRCh37
NC_000005.8:g.174084307del NCBI36
NG_008124.1:g.5127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.39del MANE Select ENSP00000239243.5:p.Asp14ThrfsTer?
ENST00000239243.6:c.39del ENSP00000239243.5:p.Asp14ThrfsTer?
ENST00000507785.2:c.39del ENSP00000427425.1:p.Asp14ThrfsTer?
NM_002449.4:c.39del NP_002440.2:p.Asp14ThrfsTer?
NM_001363626.1:c.39del NP_001350555.1:p.Asp14ThrfsTer?
NM_002449.5:c.39del MANE Select NP_002440.2:p.Asp14ThrfsTer?
NM_001363626.2:c.39del NP_001350555.1:p.Asp14ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'