Canonical Allele Identifier: CA395964414
Gene: MT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609346T>G , CM000678.2:g.56609346T>G GRCh38
NC_000016.9:g.56643258T>G , CM000678.1:g.56643258T>G GRCh37
NC_000016.8:g.55200759T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.178T>G MANE Select ENSP00000245185.5:p.Cys60Gly
ENST00000245185.5:c.178T>G ENSP00000245185.5:p.Cys60Gly
ENST00000561491.1:c.*161T>G ENSP00000456804.1:n.*161T>G
ENST00000562017.1:n.752T>G
ENST00000563985.1:n.558T>G
ENST00000567300.1:n.265T>G
NM_005953.3:c.178T>G NP_005944.1:p.Cys60Gly
NM_005953.4:c.178T>G NP_005944.1:p.Cys60Gly
NM_005953.5:c.178T>G MANE Select NP_005944.1:p.Cys60Gly