Canonical Allele Identifier: CA2302923143
Gene: ME2 HGNC NCBI

Linked Data

dbSNP Id: rs1917853096

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.50937846T>C , CM000680.2:g.50937846T>C GRCh38
NC_000018.9:g.48464216T>C , CM000680.1:g.48464216T>C GRCh37
NC_000018.8:g.46718214T>C NCBI36
NG_016198.1:g.63785T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321341.11:c.1418-1724T>C MANE Select ENSP00000321070.5:n.1418-1724T>C
ENST00000585680.2:c.1108-2442T>C ENSP00000491793.1:n.1108-2442T>C
ENST00000638410.1:c.1418-1724T>C ENSP00000492272.1:n.1418-1724T>C
ENST00000638937.1:c.1418-1724T>C ENSP00000492393.1:n.1418-1724T>C
ENST00000639115.1:c.*940-1724T>C ENSP00000492733.1:n.*940-1724T>C
ENST00000639255.1:c.1256-1724T>C ENSP00000492085.1:n.1256-1724T>C
ENST00000639398.1:c.*778-1724T>C ENSP00000492309.1:n.*778-1724T>C
ENST00000639612.1:c.1176-2442T>C
ENST00000639665.1:c.1307-2442T>C ENSP00000491520.1:n.1307-2442T>C
ENST00000639850.1:c.1304-1724T>C ENSP00000491152.1:n.1304-1724T>C
ENST00000640530.1:c.*778-1724T>C ENSP00000491724.1:n.*778-1724T>C
ENST00000640965.1:c.1307-1724T>C ENSP00000491954.1:n.1307-1724T>C
ENST00000640967.1:c.1418-2442T>C ENSP00000492067.1:n.1418-2442T>C
ENST00000321341.9:c.1418-1724T>C ENSP00000321070.5:n.1418-1724T>C
ENST00000382927.3:c.1417+5486T>C ENSP00000372384.2:n.1417+5486T>C
ENST00000585680.1:n.143-2442T>C
NM_001168335.1:c.1417+5486T>C NP_001161807.1:n.1417+5486T>C
NM_002396.4:c.1418-1724T>C NP_002387.1:n.1418-1724T>C
XR_935223.1:n.2135-2442T>C
XR_935223.2:n.2037-2442T>C
NM_002396.5:c.1418-1724T>C MANE Select NP_002387.1:n.1418-1724T>C
NM_001168335.2:c.1417+5486T>C NP_001161807.1:n.1417+5486T>C
NR_174094.1:n.1621-2442T>C