Canonical Allele Identifier: CA622656354
Gene: MT2A HGNC NCBI

Linked Data

dbSNP Id: rs1489256784
gnomAD v2: 16-56643162-T-C
gnomAD v4: 16-56609250-T-C
MyVariant Identifiers: chr16:g.56643162T>C (hg19) chr16:g.56609250T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609250T>C , CM000678.2:g.56609250T>C GRCh38
NC_000016.9:g.56643162T>C , CM000678.1:g.56643162T>C GRCh37
NC_000016.8:g.55200663T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.95-13T>C MANE Select ENSP00000245185.5:n.95-13T>C
ENST00000245185.5:c.95-13T>C ENSP00000245185.5:n.95-13T>C
ENST00000561491.1:c.*65T>C ENSP00000456804.1:n.*65T>C
ENST00000562017.1:n.656T>C
ENST00000563985.1:n.475-13T>C
ENST00000567300.1:n.182-13T>C
NM_005953.3:c.95-13T>C NP_005944.1:n.95-13T>C
NM_005953.4:c.95-13T>C NP_005944.1:n.95-13T>C
NM_005953.5:c.95-13T>C MANE Select NP_005944.1:n.95-13T>C
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