Canonical Allele Identifier: CA394244567

Gene: EME2 MRPS34

Linked Data

• ClinVar Variation Id: 430585
• ClinVar RCV Id: RCV000494696 ; RCV000505523
• dbSNP Id: rs1131692037
• gnomAD v4: 16-1773083-C-T
• MyVariant Identifiers: chr16:g.1823084C>T (hg19) ; chr16:g.1773083C>T (hg38)
• PubMed: PMID:28777931

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