Canonical Allele Identifier: CA622656355
Gene: MT2A HGNC NCBI

Linked Data

dbSNP Id: rs1209995635
gnomAD v2: 16-56643167-GC-G
gnomAD v4: 16-56609255-GC-G
MyVariant Identifiers: chr16:g.56643168del (hg19) chr16:g.56609256del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609260del , CM000678.2:g.56609260del GRCh38
NC_000016.9:g.56643172del , CM000678.1:g.56643172del GRCh37
NC_000016.8:g.55200673del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245185.6:c.95-3del MANE Select ENSP00000245185.5:n.95-3del
ENST00000245185.5:c.95-3del ENSP00000245185.5:n.95-3del
ENST00000561491.1:c.*75del ENSP00000456804.1:n.*75del
ENST00000562017.1:n.666del
ENST00000563985.1:n.475-3del
ENST00000567300.1:n.182-3del
NM_005953.3:c.95-3del NP_005944.1:n.95-3del
NM_005953.4:c.95-3del NP_005944.1:n.95-3del
NM_005953.5:c.95-3del MANE Select NP_005944.1:n.95-3del
Search 100 bp 5'
Search 100 bp 3'