Canonical Allele Identifier: CA721980206

Gene: MT2A

Linked Data

• dbSNP Id: rs1397690604
• gnomAD v3: 16-56609439-T-C
• gnomAD v4: 16-56609439-T-C
• MyVariant Identifiers: chr16:g.56643351T>C (hg19) ; chr16:g.56609439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56609439T>C , CM000678.2:g.56609439T>C	GRCh38
NC_000016.9:g.56643351T>C , CM000678.1:g.56643351T>C	GRCh37
NC_000016.8:g.55200852T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000245185.6:c.*85T>C MANE Select	ENSP00000245185.5:n.*85T>C
ENST00000245185.5:c.*85T>C	ENSP00000245185.5:n.*85T>C
ENST00000561491.1:c.*254T>C	ENSP00000456804.1:n.*254T>C
ENST00000562017.1:n.845T>C
ENST00000563985.1:n.651T>C
ENST00000567300.1:n.358T>C
NM_005953.3:c.*85T>C	NP_005944.1:n.*85T>C
XR_933616.1:n.1051A>G
NM_005953.4:c.*85T>C	NP_005944.1:n.*85T>C
NM_005953.5:c.*85T>C MANE Select	NP_005944.1:n.*85T>C