Canonical Allele Identifier: CA2633346771
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609484-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609484C>T , CM000678.2:g.56609484C>T GRCh38
NC_000016.9:g.56643396C>T , CM000678.1:g.56643396C>T GRCh37
NC_000016.8:g.55200897C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.*130C>T MANE Select ENSP00000245185.5:n.*130C>T
ENST00000245185.5:c.*130C>T ENSP00000245185.5:n.*130C>T
ENST00000561491.1:c.*299C>T ENSP00000456804.1:n.*299C>T
ENST00000562017.1:n.890C>T
ENST00000567300.1:n.403C>T
NM_005953.3:c.*130C>T NP_005944.1:n.*130C>T
XR_933616.1:n.1006G>A
NM_005953.4:c.*130C>T NP_005944.1:n.*130C>T
NM_005953.5:c.*130C>T MANE Select NP_005944.1:n.*130C>T
Search 100 bp 5'
Search 100 bp 3'