Canonical Allele Identifier: CA2633346762
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609466-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609466A>G , CM000678.2:g.56609466A>G GRCh38
NC_000016.9:g.56643378A>G , CM000678.1:g.56643378A>G GRCh37
NC_000016.8:g.55200879A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.*112A>G MANE Select ENSP00000245185.5:n.*112A>G
ENST00000245185.5:c.*112A>G ENSP00000245185.5:n.*112A>G
ENST00000561491.1:c.*281A>G ENSP00000456804.1:n.*281A>G
ENST00000562017.1:n.872A>G
ENST00000563985.1:n.678A>G
ENST00000567300.1:n.385A>G
NM_005953.3:c.*112A>G NP_005944.1:n.*112A>G
XR_933616.1:n.1024T>C
NM_005953.4:c.*112A>G NP_005944.1:n.*112A>G
NM_005953.5:c.*112A>G MANE Select NP_005944.1:n.*112A>G
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