Canonical Allele Identifier: CA14561484

Gene: ME2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50930533T>C , CM000680.2:g.50930533T>C	GRCh38
NC_000018.9:g.48456903T>C , CM000680.1:g.48456903T>C	GRCh37
NC_000018.8:g.46710901T>C	NCBI36
NG_016198.1:g.56472T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321341.11:c.1315-1725T>C MANE Select	ENSP00000321070.5:n.1315-1725T>C
ENST00000585680.2:c.1005-1725T>C	ENSP00000491793.1:n.1005-1725T>C
ENST00000589330.2:n.2295-1725T>C
ENST00000638410.1:c.1315-1725T>C	ENSP00000492272.1:n.1315-1725T>C
ENST00000638937.1:c.1315-1725T>C	ENSP00000492393.1:n.1315-1725T>C
ENST00000639115.1:c.*837-1725T>C	ENSP00000492733.1:n.*837-1725T>C
ENST00000639255.1:c.1153-1725T>C	ENSP00000492085.1:n.1153-1725T>C
ENST00000639398.1:c.*675-1725T>C	ENSP00000492309.1:n.*675-1725T>C
ENST00000639612.1:c.1073-1725T>C
ENST00000639663.1:n.1699-1725T>C
ENST00000639665.1:c.1204-1725T>C	ENSP00000491520.1:n.1204-1725T>C
ENST00000639688.1:c.*837-1725T>C	ENSP00000492377.1:n.*837-1725T>C
ENST00000639850.1:c.1201-1725T>C	ENSP00000491152.1:n.1201-1725T>C
ENST00000640530.1:c.*675-1725T>C	ENSP00000491724.1:n.*675-1725T>C
ENST00000640965.1:c.1204-1725T>C	ENSP00000491954.1:n.1204-1725T>C
ENST00000640967.1:c.1315-1725T>C	ENSP00000492067.1:n.1315-1725T>C
ENST00000321341.9:c.1315-1725T>C	ENSP00000321070.5:n.1315-1725T>C
ENST00000382927.3:c.1315-1725T>C	ENSP00000372384.2:n.1315-1725T>C
ENST00000585680.1:n.40-1725T>C
NM_001168335.1:c.1315-1725T>C	NP_001161807.1:n.1315-1725T>C
NM_002396.4:c.1315-1725T>C	NP_002387.1:n.1315-1725T>C
XR_935223.1:n.2032-1725T>C
XR_935223.2:n.1934-1725T>C
NM_002396.5:c.1315-1725T>C MANE Select	NP_002387.1:n.1315-1725T>C
NM_001168335.2:c.1315-1725T>C	NP_001161807.1:n.1315-1725T>C
NR_174094.1:n.1518-1725T>C