Canonical Allele Identifier: CA2576000315

Gene: MT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56609244_56609248dup , CM000678.2:g.56609244_56609248dup	GRCh38
NC_000016.9:g.56643156_56643160dup , CM000678.1:g.56643156_56643160dup	GRCh37
NC_000016.8:g.55200657_55200661dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245185.6:c.95-19_95-15dup MANE Select	ENSP00000245185.5:n.95-19_95-15dup
ENST00000245185.5:c.95-19_95-15dup	ENSP00000245185.5:n.95-19_95-15dup
ENST00000561491.1:c.*59_*63dup	ENSP00000456804.1:n.*59_*63dup
ENST00000562017.1:n.650_654dup
ENST00000563985.1:n.475-19_475-15dup
ENST00000567300.1:n.182-19_182-15dup
NM_005953.3:c.95-19_95-15dup	NP_005944.1:n.95-19_95-15dup
NM_005953.4:c.95-19_95-15dup	NP_005944.1:n.95-19_95-15dup
NM_005953.5:c.95-19_95-15dup MANE Select	NP_005944.1:n.95-19_95-15dup