Canonical Allele Identifier: CA721980196

Gene: MT2A

Linked Data

• dbSNP Id: rs1377843899
• gnomAD v3: 16-56609437-G-T
• gnomAD v4: 16-56609437-G-T
• MyVariant Identifiers: chr16:g.56643349G>T (hg19) ; chr16:g.56609437G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56609437G>T , CM000678.2:g.56609437G>T	GRCh38
NC_000016.9:g.56643349G>T , CM000678.1:g.56643349G>T	GRCh37
NC_000016.8:g.55200850G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000245185.6:c.*83G>T MANE Select	ENSP00000245185.5:n.*83G>T
ENST00000245185.5:c.*83G>T	ENSP00000245185.5:n.*83G>T
ENST00000561491.1:c.*252G>T	ENSP00000456804.1:n.*252G>T
ENST00000562017.1:n.843G>T
ENST00000563985.1:n.649G>T
ENST00000567300.1:n.356G>T
NM_005953.3:c.*83G>T	NP_005944.1:n.*83G>T
XR_933616.1:n.1053C>A
NM_005953.4:c.*83G>T	NP_005944.1:n.*83G>T
NM_005953.5:c.*83G>T MANE Select	NP_005944.1:n.*83G>T