Canonical Allele Identifier: CA14221000
Gene: MT2A HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10636

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609431G>C , CM000678.2:g.56609431G>C GRCh38
NC_000016.9:g.56643343G>C , CM000678.1:g.56643343G>C GRCh37
NC_000016.8:g.55200844G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_005953.3:c.*77G>C VV NP_005944.1:p.=
XR_933616.1:n.1059C>G
NM_005953.4:c.*77G>C VV
ENST00000245185.5:c.*77G>C ENSP00000245185.5:p.=
ENST00000561491.1:c.*246G>C ENSP00000456804.1:p.=
ENST00000562017.1:n.837G>C
ENST00000563985.1:n.643G>C
ENST00000567300.1:n.350G>C