Canonical Allele Identifier: CA16044164
Gene: MDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 266121
ClinVar RCV Id: RCV000417042 RCV000509017
dbSNP Id: rs1057519567
MyVariant Identifiers: chr7:g.75692873del (hg19) chr7:g.76063555del (hg38)
PubMed: PMID:27989324
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76063555del , CM000669.2:g.76063555del GRCh38
NC_000007.13:g.75692873del , CM000669.1:g.75692873del GRCh37
NC_000007.12:g.75530809del NCBI36
NG_052976.1:g.20537del

Transcript Alleles

HGVS Amino-acid change
ENST00000315758.10:c.596del MANE Select ENSP00000327070.5:p.Gly199AlafsTer10
ENST00000315758.9:c.596del ENSP00000327070.5:p.Gly199AlafsTer10
ENST00000424167.2:n.172del
ENST00000432020.2:c.470del ENSP00000408649.2:p.Gly157AlafsTer10
ENST00000443006.5:c.275del ENSP00000416929.1:p.Gly92AlafsTer10
NM_001282403.1:c.470del NP_001269332.1:p.Gly157AlafsTer10
NM_001282404.1:c.275del NP_001269333.1:p.Gly92AlafsTer10
NM_005918.3:c.596del NP_005909.2:p.Gly199AlafsTer10
NM_005918.4:c.596del MANE Select NP_005909.2:p.Gly199AlafsTer10
NM_001282403.2:c.470del NP_001269332.1:p.Gly157AlafsTer10
NM_001282404.2:c.275del NP_001269333.1:p.Gly92AlafsTer10
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