Canonical Allele Identifier: CA2633346745

Gene: MT2A

Linked Data

• gnomAD v4: 16-56609444-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56609444A>T , CM000678.2:g.56609444A>T	GRCh38
NC_000016.9:g.56643356A>T , CM000678.1:g.56643356A>T	GRCh37
NC_000016.8:g.55200857A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000245185.6:c.*90A>T MANE Select	ENSP00000245185.5:n.*90A>T
ENST00000245185.5:c.*90A>T	ENSP00000245185.5:n.*90A>T
ENST00000561491.1:c.*259A>T	ENSP00000456804.1:n.*259A>T
ENST00000562017.1:n.850A>T
ENST00000563985.1:n.656A>T
ENST00000567300.1:n.363A>T
NM_005953.3:c.*90A>T	NP_005944.1:n.*90A>T
XR_933616.1:n.1046T>A
NM_005953.4:c.*90A>T	NP_005944.1:n.*90A>T
NM_005953.5:c.*90A>T MANE Select	NP_005944.1:n.*90A>T