Canonical Allele Identifier: CA721980221
Gene: MT2A HGNC NCBI

Linked Data

dbSNP Id: rs1172758606
gnomAD v4: 16-56609481-A-G
MyVariant Identifiers: chr16:g.56643393A>G (hg19) chr16:g.56609481A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609481A>G , CM000678.2:g.56609481A>G GRCh38
NC_000016.9:g.56643393A>G , CM000678.1:g.56643393A>G GRCh37
NC_000016.8:g.55200894A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.*127A>G MANE Select ENSP00000245185.5:n.*127A>G
ENST00000245185.5:c.*127A>G ENSP00000245185.5:n.*127A>G
ENST00000561491.1:c.*296A>G ENSP00000456804.1:n.*296A>G
ENST00000562017.1:n.887A>G
ENST00000567300.1:n.400A>G
NM_005953.3:c.*127A>G NP_005944.1:n.*127A>G
XR_933616.1:n.1009T>C
NM_005953.4:c.*127A>G NP_005944.1:n.*127A>G
NM_005953.5:c.*127A>G MANE Select NP_005944.1:n.*127A>G
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