Canonical Allele Identifier: CA2224227354
Gene: MT2A HGNC NCBI

Linked Data

dbSNP Id: rs1960004587
gnomAD v4: 16-56609249-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609249C>A , CM000678.2:g.56609249C>A GRCh38
NC_000016.9:g.56643161C>A , CM000678.1:g.56643161C>A GRCh37
NC_000016.8:g.55200662C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.95-14C>A MANE Select ENSP00000245185.5:n.95-14C>A
ENST00000245185.5:c.95-14C>A ENSP00000245185.5:n.95-14C>A
ENST00000561491.1:c.*64C>A ENSP00000456804.1:n.*64C>A
ENST00000562017.1:n.655C>A
ENST00000563985.1:n.475-14C>A
ENST00000567300.1:n.182-14C>A
NM_005953.3:c.95-14C>A NP_005944.1:n.95-14C>A
NM_005953.4:c.95-14C>A NP_005944.1:n.95-14C>A
NM_005953.5:c.95-14C>A MANE Select NP_005944.1:n.95-14C>A
Search 100 bp 5'
Search 100 bp 3'