Canonical Allele Identifier: CA2224227361

Gene: MT2A

Linked Data

• dbSNP Id: rs1960004735

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56609258C>T , CM000678.2:g.56609258C>T	GRCh38
NC_000016.9:g.56643170C>T , CM000678.1:g.56643170C>T	GRCh37
NC_000016.8:g.55200671C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000245185.6:c.95-5C>T MANE Select	ENSP00000245185.5:n.95-5C>T
ENST00000245185.5:c.95-5C>T	ENSP00000245185.5:n.95-5C>T
ENST00000561491.1:c.*73C>T	ENSP00000456804.1:n.*73C>T
ENST00000562017.1:n.664C>T
ENST00000563985.1:n.475-5C>T
ENST00000567300.1:n.182-5C>T
NM_005953.3:c.95-5C>T	NP_005944.1:n.95-5C>T
NM_005953.4:c.95-5C>T	NP_005944.1:n.95-5C>T
NM_005953.5:c.95-5C>T MANE Select	NP_005944.1:n.95-5C>T