Canonical Allele Identifier: CA2633346776
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609493-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609493C>A , CM000678.2:g.56609493C>A GRCh38
NC_000016.9:g.56643405C>A , CM000678.1:g.56643405C>A GRCh37
NC_000016.8:g.55200906C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.*139C>A MANE Select ENSP00000245185.5:n.*139C>A
ENST00000245185.5:c.*139C>A ENSP00000245185.5:n.*139C>A
ENST00000561491.1:c.*308C>A ENSP00000456804.1:n.*308C>A
ENST00000562017.1:n.899C>A
ENST00000567300.1:n.412C>A
NM_005953.3:c.*139C>A NP_005944.1:n.*139C>A
XR_933616.1:n.997G>T
NM_005953.4:c.*139C>A NP_005944.1:n.*139C>A
NM_005953.5:c.*139C>A MANE Select NP_005944.1:n.*139C>A
Search 100 bp 5'
Search 100 bp 3'