Canonical Allele Identifier: CA281473211
Gene: MT2A HGNC NCBI

Linked Data

dbSNP Id: rs866376761
gnomAD v4: 16-56609236-T-G
MyVariant Identifiers: chr16:g.56643148T>G (hg19) chr16:g.56609236T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609236T>G , CM000678.2:g.56609236T>G GRCh38
NC_000016.9:g.56643148T>G , CM000678.1:g.56643148T>G GRCh37
NC_000016.8:g.55200649T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.95-27T>G MANE Select ENSP00000245185.5:n.95-27T>G
ENST00000245185.5:c.95-27T>G ENSP00000245185.5:n.95-27T>G
ENST00000561491.1:c.*51T>G ENSP00000456804.1:n.*51T>G
ENST00000562017.1:n.642T>G
ENST00000563985.1:n.475-27T>G
ENST00000567300.1:n.182-27T>G
NM_005953.3:c.95-27T>G NP_005944.1:n.95-27T>G
NM_005953.4:c.95-27T>G NP_005944.1:n.95-27T>G
NM_005953.5:c.95-27T>G MANE Select NP_005944.1:n.95-27T>G
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