Canonical Allele Identifier: CA622656370
Gene: MT2A HGNC NCBI

Linked Data

dbSNP Id: rs1434138030
gnomAD v2: 16-56643337-CTGACCG-C
gnomAD v3: 16-56609425-CTGACCG-C
gnomAD v4: 16-56609425-CTGACCG-C
MyVariant Identifiers: chr16:g.56643338_56643343del (hg19) chr16:g.56609426_56609431del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56609433_56609438del , CM000678.2:g.56609433_56609438del GRCh38
NC_000016.9:g.56643345_56643350del , CM000678.1:g.56643345_56643350del GRCh37
NC_000016.8:g.55200846_55200851del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000245185.6:c.*79_*84del MANE Select ENSP00000245185.5:n.*79_*84del
ENST00000245185.5:c.*79_*84del ENSP00000245185.5:n.*79_*84del
ENST00000561491.1:c.*248_*253del ENSP00000456804.1:n.*248_*253del
ENST00000562017.1:n.839_844del
ENST00000563985.1:n.645_650del
ENST00000567300.1:n.352_357del
NM_005953.3:c.*79_*84del NP_005944.1:n.*79_*84del
XR_933616.1:n.1059_1064del
NM_005953.4:c.*79_*84del NP_005944.1:n.*79_*84del
NM_005953.5:c.*79_*84del MANE Select NP_005944.1:n.*79_*84del
Search 100 bp 5'
Search 100 bp 3'