Canonical Allele Identifier: CA395964269
Gene: MT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609331G>C , CM000678.2:g.56609331G>C GRCh38
NC_000016.9:g.56643243G>C , CM000678.1:g.56643243G>C GRCh37
NC_000016.8:g.55200744G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.163G>C MANE Select ENSP00000245185.5:p.Asp55His
ENST00000245185.5:c.163G>C ENSP00000245185.5:p.Asp55His
ENST00000561491.1:c.*146G>C ENSP00000456804.1:n.*146G>C
ENST00000562017.1:n.737G>C
ENST00000563985.1:n.543G>C
ENST00000567300.1:n.250G>C
NM_005953.3:c.163G>C NP_005944.1:p.Asp55His
NM_005953.4:c.163G>C NP_005944.1:p.Asp55His
NM_005953.5:c.163G>C MANE Select NP_005944.1:p.Asp55His