Canonical Allele Identifier: CA2633346775
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609492-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609492A>T , CM000678.2:g.56609492A>T GRCh38
NC_000016.9:g.56643404A>T , CM000678.1:g.56643404A>T GRCh37
NC_000016.8:g.55200905A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.*138A>T MANE Select ENSP00000245185.5:n.*138A>T
ENST00000245185.5:c.*138A>T ENSP00000245185.5:n.*138A>T
ENST00000561491.1:c.*307A>T ENSP00000456804.1:n.*307A>T
ENST00000562017.1:n.898A>T
ENST00000567300.1:n.411A>T
NM_005953.3:c.*138A>T NP_005944.1:n.*138A>T
XR_933616.1:n.998T>A
NM_005953.4:c.*138A>T NP_005944.1:n.*138A>T
NM_005953.5:c.*138A>T MANE Select NP_005944.1:n.*138A>T
Search 100 bp 5'
Search 100 bp 3'