Canonical Allele Identifier: CA3565157
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs766426359
ExAC: 5:174152066 A / AGGAGGTAGCGCGGGGTACT
gnomAD v4: 5-174725063-A-AGGAGGTAGCGCGGGGTACT
MyVariant Identifiers: chr5:g.174152066_174152067insGGAGGTAGCGCGGGGTACT (hg19) chr5:g.174725063_174725064insGGAGGTAGCGCGGGGTACT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725069_174725087dup , CM000667.2:g.174725069_174725087dup GRCh38
NC_000005.9:g.174152072_174152090dup , CM000667.1:g.174152072_174152090dup GRCh37
NC_000005.8:g.174084678_174084696dup NCBI36
NG_008124.1:g.5498_5516dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+31_379+49dup MANE Select ENSP00000239243.5:n.379+31_379+49dup
ENST00000239243.6:c.379+31_379+49dup ENSP00000239243.5:n.379+31_379+49dup
ENST00000507785.2:c.*3+2_*3+20dup
NM_002449.4:c.379+31_379+49dup NP_002440.2:n.379+31_379+49dup
NM_001363626.1:c.*3+2_*3+20dup
NM_002449.5:c.379+31_379+49dup MANE Select NP_002440.2:n.379+31_379+49dup
NM_001363626.2:c.*3+2_*3+20dup
Search 100 bp 5'
Search 100 bp 3'