Canonical Allele Identifier: CA8066569
Gene: MT2A HGNC NCBI

Linked Data

dbSNP Id: rs759507791
ExAC: 16:56643174 G / C
gnomAD v2: 16-56643174-G-C
gnomAD v4: 16-56609262-G-C
MyVariant Identifiers: chr16:g.56643174G>C (hg19) chr16:g.56609262G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609262G>C , CM000678.2:g.56609262G>C GRCh38
NC_000016.9:g.56643174G>C , CM000678.1:g.56643174G>C GRCh37
NC_000016.8:g.55200675G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.95-1G>C MANE Select ENSP00000245185.5:n.95-1G>C
ENST00000245185.5:c.95-1G>C ENSP00000245185.5:n.95-1G>C
ENST00000561491.1:c.*77G>C ENSP00000456804.1:n.*77G>C
ENST00000562017.1:n.668G>C
ENST00000563985.1:n.475-1G>C
ENST00000567300.1:n.182-1G>C
NM_005953.3:c.95-1G>C NP_005944.1:n.95-1G>C
NM_005953.4:c.95-1G>C NP_005944.1:n.95-1G>C
NM_005953.5:c.95-1G>C MANE Select NP_005944.1:n.95-1G>C
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