Canonical Allele Identifier: CA8965348
Gene: ME2 HGNC NCBI

Linked Data

ClinVar Variation Id: 94060
ClinVar RCV Id: RCV000598346
dbSNP Id: rs142847061

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.50932347T>A , CM000680.2:g.50932347T>A GRCh38
NC_000018.9:g.48458717T>A , CM000680.1:g.48458717T>A GRCh37
NC_000018.8:g.46712715T>A NCBI36
NG_016198.1:g.58286T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321341.11:c.1404T>A MANE Select ENSP00000321070.5:p.Val468=
ENST00000585680.2:c.1094T>A ENSP00000491793.1:n.1094T>A
ENST00000589330.2:n.2384T>A
ENST00000638410.1:c.1404T>A ENSP00000492272.1:p.Val468=
ENST00000638937.1:c.1404T>A ENSP00000492393.1:p.Val468=
ENST00000639115.1:c.*926T>A ENSP00000492733.1:n.*926T>A
ENST00000639255.1:c.1242T>A ENSP00000492085.1:p.Val414=
ENST00000639398.1:c.*764T>A ENSP00000492309.1:n.*764T>A
ENST00000639612.1:c.1162T>A
ENST00000639663.1:n.1788T>A
ENST00000639665.1:c.1293T>A ENSP00000491520.1:p.Val431=
ENST00000639688.1:c.*926T>A ENSP00000492377.1:n.*926T>A
ENST00000639850.1:c.1290T>A ENSP00000491152.1:p.Val430=
ENST00000640530.1:c.*764T>A ENSP00000491724.1:n.*764T>A
ENST00000640965.1:c.1293T>A ENSP00000491954.1:p.Val431=
ENST00000640967.1:c.1404T>A ENSP00000492067.1:p.Val468=
ENST00000321341.9:c.1404T>A ENSP00000321070.5:p.Val468=
ENST00000382927.3:c.1404T>A ENSP00000372384.2:p.Val468=
ENST00000585680.1:n.129T>A
NM_001168335.1:c.1404T>A NP_001161807.1:p.Val468=
NM_002396.4:c.1404T>A NP_002387.1:p.Val468=
XR_935223.1:n.2121T>A
XR_935223.2:n.2023T>A
NM_002396.5:c.1404T>A MANE Select NP_002387.1:p.Val468=
NM_001168335.2:c.1404T>A NP_001161807.1:p.Val468=
NR_174094.1:n.1607T>A