Canonical Allele Identifier: CA395964438
Gene: MT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609348C>G , CM000678.2:g.56609348C>G GRCh38
NC_000016.9:g.56643260C>G , CM000678.1:g.56643260C>G GRCh37
NC_000016.8:g.55200761C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.180C>G MANE Select ENSP00000245185.5:p.Cys60Trp
ENST00000245185.5:c.180C>G ENSP00000245185.5:p.Cys60Trp
ENST00000561491.1:c.*163C>G ENSP00000456804.1:n.*163C>G
ENST00000562017.1:n.754C>G
ENST00000563985.1:n.560C>G
ENST00000567300.1:n.267C>G
NM_005953.3:c.180C>G NP_005944.1:p.Cys60Trp
NM_005953.4:c.180C>G NP_005944.1:p.Cys60Trp
NM_005953.5:c.180C>G MANE Select NP_005944.1:p.Cys60Trp