Canonical Allele Identifier: CA238785
Gene: EMX2 HGNC NCBI
EMX2OS HGNC NCBI

Linked Data

ClinVar Variation Id: 193270
ClinVar RCV Id: RCV000173326 RCV003917597
dbSNP Id: rs756693906
ExAC: 10:119302937 GGCCGCC / G
gnomAD v2: 10-119302937-GGCCGCC-G
gnomAD v3: 10-117543426-GGCCGCC-G
gnomAD v4: 10-117543426-GGCCGCC-G
MyVariant Identifiers: chr10:g.119302951_119302956del (hg19) chr10:g.119302938_119302943del (hg19) chr10:g.117543440_117543445del (hg38) chr10:g.117543427_117543432del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117543440_117543445del , CM000672.2:g.117543440_117543445del GRCh38
NC_000010.10:g.119302951_119302956del , CM000672.1:g.119302951_119302956del GRCh37
NC_000010.9:g.119292941_119292946del NCBI36
NG_013009.1:g.5996_6001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553456.5:c.173_178del (EMX2) MANE Select ENSP00000450962.3:p.Ala58_Ala59del
ENST00000442245.5:c.173_178del (EMX2) ENSP00000474874.1:p.Ala58_Ala59del
ENST00000553456.4:c.173_178del (EMX2) ENSP00000450962.3:p.Ala58_Ala59del
NM_001165924.1:c.173_178del (EMX2) NP_001159396.1:p.Ala58_Ala59del
NM_004098.3:c.173_178del (EMX2) NP_004089.1:p.Ala58_Ala59del
NR_002791.2:n.574+874_574+879del (EMX2OS)
NM_004098.4:c.173_178del (EMX2) MANE Select NP_004089.1:p.Ala58_Ala59del
NM_001165924.2:c.173_178del (EMX2) NP_001159396.1:p.Ala58_Ala59del
Search 100 bp 5'
Search 100 bp 3'