Canonical Allele Identifier: CA2633346767
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609474-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609474G>A , CM000678.2:g.56609474G>A GRCh38
NC_000016.9:g.56643386G>A , CM000678.1:g.56643386G>A GRCh37
NC_000016.8:g.55200887G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.*120G>A MANE Select ENSP00000245185.5:n.*120G>A
ENST00000245185.5:c.*120G>A ENSP00000245185.5:n.*120G>A
ENST00000561491.1:c.*289G>A ENSP00000456804.1:n.*289G>A
ENST00000562017.1:n.880G>A
ENST00000563985.1:n.686G>A
ENST00000567300.1:n.393G>A
NM_005953.3:c.*120G>A NP_005944.1:n.*120G>A
XR_933616.1:n.1016C>T
NM_005953.4:c.*120G>A NP_005944.1:n.*120G>A
NM_005953.5:c.*120G>A MANE Select NP_005944.1:n.*120G>A
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