Canonical Allele Identifier: CA2576000324
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609451-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609451T>C , CM000678.2:g.56609451T>C GRCh38
NC_000016.9:g.56643363T>C , CM000678.1:g.56643363T>C GRCh37
NC_000016.8:g.55200864T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.*97T>C MANE Select ENSP00000245185.5:n.*97T>C
ENST00000245185.5:c.*97T>C ENSP00000245185.5:n.*97T>C
ENST00000561491.1:c.*266T>C ENSP00000456804.1:n.*266T>C
ENST00000562017.1:n.857T>C
ENST00000563985.1:n.663T>C
ENST00000567300.1:n.370T>C
NM_005953.3:c.*97T>C NP_005944.1:n.*97T>C
XR_933616.1:n.1039A>G
NM_005953.4:c.*97T>C NP_005944.1:n.*97T>C
NM_005953.5:c.*97T>C MANE Select NP_005944.1:n.*97T>C
Search 100 bp 5'
Search 100 bp 3'