Canonical Allele Identifier: CA2633346764
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609468-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609468G>T , CM000678.2:g.56609468G>T GRCh38
NC_000016.9:g.56643380G>T , CM000678.1:g.56643380G>T GRCh37
NC_000016.8:g.55200881G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.*114G>T MANE Select ENSP00000245185.5:n.*114G>T
ENST00000245185.5:c.*114G>T ENSP00000245185.5:n.*114G>T
ENST00000561491.1:c.*283G>T ENSP00000456804.1:n.*283G>T
ENST00000562017.1:n.874G>T
ENST00000563985.1:n.680G>T
ENST00000567300.1:n.387G>T
NM_005953.3:c.*114G>T NP_005944.1:n.*114G>T
XR_933616.1:n.1022C>A
NM_005953.4:c.*114G>T NP_005944.1:n.*114G>T
NM_005953.5:c.*114G>T MANE Select NP_005944.1:n.*114G>T
Search 100 bp 5'
Search 100 bp 3'