Canonical Allele Identifier: CA917643870
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1581516342
gnomAD v4: 5-174724709-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724712del , CM000667.2:g.174724712del GRCh38
NC_000005.9:g.174151715del , CM000667.1:g.174151715del GRCh37
NC_000005.8:g.174084321del NCBI36
NG_008124.1:g.5141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.53del MANE Select ENSP00000239243.5:p.Pro18GlnfsTer?
ENST00000239243.6:c.53del ENSP00000239243.5:p.Pro18GlnfsTer?
ENST00000507785.2:c.53del ENSP00000427425.1:p.Pro18GlnfsTer?
NM_002449.4:c.53del NP_002440.2:p.Pro18GlnfsTer?
NM_001363626.1:c.53del NP_001350555.1:p.Pro18GlnfsTer?
NM_002449.5:c.53del MANE Select NP_002440.2:p.Pro18GlnfsTer?
NM_001363626.2:c.53del NP_001350555.1:p.Pro18GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'