Canonical Allele Identifier: CA5711387

Gene: EMX2 EMX2OS

Linked Data

• ClinVar Variation Id: 499434
• ClinVar RCV Id: RCV000596975 ; RCV001255078
• dbSNP Id: rs756693906
• ExAC: 10:119302937 G / GGCCGCC
• gnomAD v2: 10-119302937-G-GGCCGCC
• gnomAD v3: 10-117543426-G-GGCCGCC
• gnomAD v4: 10-117543426-G-GGCCGCC
• MyVariant Identifiers: chr10:g.119302951_119302956dup (hg19) ; chr10:g.119302943_119302944insGCCGCC (hg19) ; chr10:g.119302937_119302938insGCCGCC (hg19) ; chr10:g.117543440_117543445dup (hg38) ; chr10:g.117543426_117543427insGCCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117543440_117543445dup , CM000672.2:g.117543440_117543445dup	GRCh38
NC_000010.10:g.119302951_119302956dup , CM000672.1:g.119302951_119302956dup	GRCh37
NC_000010.9:g.119292941_119292946dup	NCBI36
NG_013009.1:g.5996_6001dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553456.5:c.173_178dup (EMX2) MANE Select	ENSP00000450962.3:p.Ala59_Gly60insAlaAla
ENST00000442245.5:c.173_178dup (EMX2)	ENSP00000474874.1:p.Ala59_Gly60insAlaAla
ENST00000553456.4:c.173_178dup (EMX2)	ENSP00000450962.3:p.Ala59_Gly60insAlaAla
NM_001165924.1:c.173_178dup (EMX2)	NP_001159396.1:p.Ala59_Gly60insAlaAla
NM_004098.3:c.173_178dup (EMX2)	NP_004089.1:p.Ala59_Gly60insAlaAla
NR_002791.2:n.574+874_574+879dup (EMX2OS)
NM_004098.4:c.173_178dup (EMX2) MANE Select	NP_004089.1:p.Ala59_Gly60insAlaAla
NM_001165924.2:c.173_178dup (EMX2)	NP_001159396.1:p.Ala59_Gly60insAlaAla