Canonical Allele Identifier: CA395964444
Gene: MT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609349G>C , CM000678.2:g.56609349G>C GRCh38
NC_000016.9:g.56643261G>C , CM000678.1:g.56643261G>C GRCh37
NC_000016.8:g.55200762G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.181G>C MANE Select ENSP00000245185.5:p.Ala61Pro
ENST00000245185.5:c.181G>C ENSP00000245185.5:p.Ala61Pro
ENST00000561491.1:c.*164G>C ENSP00000456804.1:n.*164G>C
ENST00000562017.1:n.755G>C
ENST00000563985.1:n.561G>C
ENST00000567300.1:n.268G>C
NM_005953.3:c.181G>C NP_005944.1:p.Ala61Pro
NM_005953.4:c.181G>C NP_005944.1:p.Ala61Pro
NM_005953.5:c.181G>C MANE Select NP_005944.1:p.Ala61Pro