Canonical Allele Identifier: CA2224227459

Gene: MT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56609484C= , CM000678.2:g.56609484C=	GRCh38
NC_000016.9:g.56643396C= , CM000678.1:g.56643396C=	GRCh37
NC_000016.8:g.55200897C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245185.6:c.*130C= MANE Select	ENSP00000245185.5:n.*130C=
ENST00000245185.5:c.*130C=	ENSP00000245185.5:n.*130C=
ENST00000561491.1:c.*299C=	ENSP00000456804.1:n.*299C=
ENST00000562017.1:n.890C=
ENST00000567300.1:n.403C=
NM_005953.3:c.*130C=	NP_005944.1:n.*130C=
XR_933616.1:n.1006G=
NM_005953.4:c.*130C=	NP_005944.1:n.*130C=
NM_005953.5:c.*130C= MANE Select	NP_005944.1:n.*130C=