Canonical Allele Identifier: CA395963891
Gene: MT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609265T>C , CM000678.2:g.56609265T>C GRCh38
NC_000016.9:g.56643177T>C , CM000678.1:g.56643177T>C GRCh37
NC_000016.8:g.55200678T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.97T>C MANE Select ENSP00000245185.5:p.Cys33Arg
ENST00000245185.5:c.97T>C ENSP00000245185.5:p.Cys33Arg
ENST00000561491.1:c.*80T>C ENSP00000456804.1:n.*80T>C
ENST00000562017.1:n.671T>C
ENST00000563985.1:n.477T>C
ENST00000567300.1:n.184T>C
NM_005953.3:c.97T>C NP_005944.1:p.Cys33Arg
NM_005953.4:c.97T>C NP_005944.1:p.Cys33Arg
NM_005953.5:c.97T>C MANE Select NP_005944.1:p.Cys33Arg