Canonical Allele Identifier: CA394244567
Gene: EME2 HGNC NCBI
MRPS34 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.1773083C>T
GRCh37 chr16:g.1823084C>T
Revel Score:
ENST00000397375 (MANE Select) 0.141
ENST00000177742 0.141
gnomAD v4:
chr16-1773083-C-T
Joint Max Group AF 0.00000135 (NFE)
Exomes Max Group AF 0.00000144 (NFE)
ClinVar Allele:
423091
ClinVar RCV:
RCV000494696
RCV000505523
ClinVar Variation:
430585
dbSNP:
1131692037
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1773083C>T , CM000678.2:g.1773083C>T GRCh38
NC_000016.9:g.1823084C>T , CM000678.1:g.1823084C>T GRCh37
NC_000016.8:g.1763085C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000568449.7:c.-145C>T (EME2) MANE Select ENSP00000457353.1:n.-145C>T
ENST00000397375.7:c.37G>A (MRPS34) MANE Select ENSP00000380531.3:p.Glu13Lys
ENST00000568449.6:c.-145C>T (EME2) ENSP00000457353.1:n.-145C>T
ENST00000177742.7:c.37G>A (MRPS34) ENSP00000177742.3:p.Glu13Lys
ENST00000397375.6:c.37G>A (MRPS34) ENSP00000380531.2:p.Glu13Lys
ENST00000613089.1:c.37G>A (MRPS34) ENSP00000479049.1:p.Glu13Lys
NM_001300900.1:c.37G>A (MRPS34) NP_001287829.1:p.Glu13Lys
NM_023936.1:c.37G>A (MRPS34) NP_076425.1:p.Glu13Lys
XM_017023595.1:c.37G>A (MRPS34) XP_016879084.1:p.Glu13Lys
NM_001300900.2:c.37G>A (MRPS34) NP_001287829.1:p.Glu13Lys
NM_023936.2:c.37G>A (MRPS34) MANE Select NP_076425.1:p.Glu13Lys
NM_001257370.2:c.-145C>T (EME2) MANE Select NP_001244299.1:n.-145C>T
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