Canonical Allele Identifier: CA2302920682
Community Standard Title: NM_002396.5(ME2):c.1349G= (p.Gly450=)
Gene: ME2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.50932292G= , CM000680.2:g.50932292G= GRCh38
NC_000018.9:g.48458662G= , CM000680.1:g.48458662G= GRCh37
NC_000018.8:g.46712660G= NCBI36
NG_016198.1:g.58231G=

Transcript Alleles

HGVS Amino-acid Change
NM_002396.5:c.1349G= MANE Select NP_002387.1:p.Gly450=
ENST00000321341.11:c.1349G= MANE Select ENSP00000321070.5:p.Gly450=
NM_001168335.1:c.1349G= NP_001161807.1:p.Gly450=
NM_001168335.2:c.1349G= NP_001161807.1:p.Gly450=
NM_002396.4:c.1349G= NP_002387.1:p.Gly450=
NR_174094.1:n.1552G=
ENST00000321341.9:c.1349G= ENSP00000321070.5:p.Gly450=
ENST00000382927.3:c.1349G= ENSP00000372384.2:p.Gly450=
ENST00000585680.1:n.74G=
ENST00000585680.2:c.1039G= ENSP00000491793.1:n.1039G=
ENST00000589330.2:n.2329G=
ENST00000638410.1:c.1349G= ENSP00000492272.1:p.Gly450=
ENST00000638937.1:c.1349G= ENSP00000492393.1:p.Gly450=
ENST00000639115.1:c.*871G= ENSP00000492733.1:n.*871G=
ENST00000639255.1:c.1187G= ENSP00000492085.1:p.Gly396=
ENST00000639398.1:c.*709G= ENSP00000492309.1:n.*709G=
ENST00000639612.1:c.1107G=
ENST00000639663.1:n.1733G=
ENST00000639665.1:c.1238G= ENSP00000491520.1:p.Gly413=
ENST00000639688.1:c.*871G= ENSP00000492377.1:n.*871G=
ENST00000639850.1:c.1235G= ENSP00000491152.1:p.Gly412=
ENST00000640530.1:c.*709G= ENSP00000491724.1:n.*709G=
ENST00000640965.1:c.1238G= ENSP00000491954.1:p.Gly413=
ENST00000640967.1:c.1349G= ENSP00000492067.1:p.Gly450=
XR_935223.1:n.2066G=
XR_935223.2:n.1968G=