Canonical Allele Identifier: CA395963885
Gene: MT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609264C>A , CM000678.2:g.56609264C>A GRCh38
NC_000016.9:g.56643176C>A , CM000678.1:g.56643176C>A GRCh37
NC_000016.8:g.55200677C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.96C>A MANE Select ENSP00000245185.5:p.Ser32Arg
ENST00000245185.5:c.96C>A ENSP00000245185.5:p.Ser32Arg
ENST00000561491.1:c.*79C>A ENSP00000456804.1:n.*79C>A
ENST00000562017.1:n.670C>A
ENST00000563985.1:n.476C>A
ENST00000567300.1:n.183C>A
NM_005953.3:c.96C>A NP_005944.1:p.Ser32Arg
NM_005953.4:c.96C>A NP_005944.1:p.Ser32Arg
NM_005953.5:c.96C>A MANE Select NP_005944.1:p.Ser32Arg