Canonical Allele Identifier: CA2633346704
Gene: MT2A HGNC NCBI

Linked Data

gnomAD v4: 16-56609251-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609251G>C , CM000678.2:g.56609251G>C GRCh38
NC_000016.9:g.56643163G>C , CM000678.1:g.56643163G>C GRCh37
NC_000016.8:g.55200664G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.95-12G>C MANE Select ENSP00000245185.5:n.95-12G>C
ENST00000245185.5:c.95-12G>C ENSP00000245185.5:n.95-12G>C
ENST00000561491.1:c.*66G>C ENSP00000456804.1:n.*66G>C
ENST00000562017.1:n.657G>C
ENST00000563985.1:n.475-12G>C
ENST00000567300.1:n.182-12G>C
NM_005953.3:c.95-12G>C NP_005944.1:n.95-12G>C
NM_005953.4:c.95-12G>C NP_005944.1:n.95-12G>C
NM_005953.5:c.95-12G>C MANE Select NP_005944.1:n.95-12G>C
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