Canonical Allele Identifier: CA402464473

Gene: ME2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_002396.5:c.1349G>T MANE Select	NP_002387.1:p.Gly450Val
ENST00000321341.11:c.1349G>T MANE Select	ENSP00000321070.5:p.Gly450Val
NM_001168335.1:c.1349G>T	NP_001161807.1:p.Gly450Val
NM_001168335.2:c.1349G>T	NP_001161807.1:p.Gly450Val
NM_002396.4:c.1349G>T	NP_002387.1:p.Gly450Val
NR_174094.1:n.1552G>T
ENST00000321341.9:c.1349G>T	ENSP00000321070.5:p.Gly450Val
ENST00000382927.3:c.1349G>T	ENSP00000372384.2:p.Gly450Val
ENST00000585680.1:n.74G>T
ENST00000585680.2:c.1039G>T	ENSP00000491793.1:n.1039G>T
ENST00000589330.2:n.2329G>T
ENST00000638410.1:c.1349G>T	ENSP00000492272.1:p.Gly450Val
ENST00000638937.1:c.1349G>T	ENSP00000492393.1:p.Gly450Val
ENST00000639115.1:c.*871G>T	ENSP00000492733.1:n.*871G>T
ENST00000639255.1:c.1187G>T	ENSP00000492085.1:p.Gly396Val
ENST00000639398.1:c.*709G>T	ENSP00000492309.1:n.*709G>T
ENST00000639612.1:c.1107G>T
ENST00000639663.1:n.1733G>T
ENST00000639665.1:c.1238G>T	ENSP00000491520.1:p.Gly413Val
ENST00000639688.1:c.*871G>T	ENSP00000492377.1:n.*871G>T
ENST00000639850.1:c.1235G>T	ENSP00000491152.1:p.Gly412Val
ENST00000640530.1:c.*709G>T	ENSP00000491724.1:n.*709G>T
ENST00000640965.1:c.1238G>T	ENSP00000491954.1:p.Gly413Val
ENST00000640967.1:c.1349G>T	ENSP00000492067.1:p.Gly450Val
XR_935223.1:n.2066G>T
XR_935223.2:n.1968G>T