Canonical Allele Identifier: CA564856578
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2900298
ClinVar RCV Id: RCV003760322 RCV003966630
dbSNP Id: rs1373121328
gnomAD v2: 5-174152052-G-A
gnomAD v4: 5-174725049-G-A
MyVariant Identifiers: chr5:g.174152052G>A (hg19) chr5:g.174725049G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725049G>A , CM000667.2:g.174725049G>A GRCh38
NC_000005.9:g.174152052G>A , CM000667.1:g.174152052G>A GRCh37
NC_000005.8:g.174084658G>A NCBI36
NG_008124.1:g.5478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+11G>A MANE Select ENSP00000239243.5:n.379+11G>A
ENST00000239243.6:c.379+11G>A ENSP00000239243.5:n.379+11G>A
ENST00000507785.2:c.390G>A ENSP00000427425.1:p.Ala130=
NM_002449.4:c.379+11G>A NP_002440.2:n.379+11G>A
NM_001363626.1:c.390G>A NP_001350555.1:p.Ala130=
NM_002449.5:c.379+11G>A MANE Select NP_002440.2:n.379+11G>A
NM_001363626.2:c.390G>A NP_001350555.1:p.Ala130=
Search 100 bp 5'
Search 100 bp 3'