Canonical Allele Identifier: CA780223392

Gene: ME2

Linked Data

• dbSNP Id: rs1405988368
• MyVariant Identifiers: chr18:g.48464202_48464204del (hg19) ; chr18:g.50937832_50937834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50937833_50937835del , CM000680.2:g.50937833_50937835del	GRCh38
NC_000018.9:g.48464203_48464205del , CM000680.1:g.48464203_48464205del	GRCh37
NC_000018.8:g.46718201_46718203del	NCBI36
NG_016198.1:g.63772_63774del

Transcript Alleles

HGVS	Amino-acid change
ENST00000321341.11:c.1418-1737_1418-1735del MANE Select	ENSP00000321070.5:n.1418-1737_1418-1735del
ENST00000585680.2:c.1108-2455_1108-2453del	ENSP00000491793.1:n.1108-2455_1108-2453del
ENST00000638410.1:c.1418-1737_1418-1735del	ENSP00000492272.1:n.1418-1737_1418-1735del
ENST00000638937.1:c.1418-1737_1418-1735del	ENSP00000492393.1:n.1418-1737_1418-1735del
ENST00000639115.1:c.*940-1737_*940-1735del	ENSP00000492733.1:n.*940-1737_*940-1735del
ENST00000639255.1:c.1256-1737_1256-1735del	ENSP00000492085.1:n.1256-1737_1256-1735del
ENST00000639398.1:c.*778-1737_*778-1735del	ENSP00000492309.1:n.*778-1737_*778-1735del
ENST00000639612.1:c.1176-2455_1176-2453del
ENST00000639665.1:c.1307-2455_1307-2453del	ENSP00000491520.1:n.1307-2455_1307-2453del
ENST00000639850.1:c.1304-1737_1304-1735del	ENSP00000491152.1:n.1304-1737_1304-1735del
ENST00000640530.1:c.*778-1737_*778-1735del	ENSP00000491724.1:n.*778-1737_*778-1735del
ENST00000640965.1:c.1307-1737_1307-1735del	ENSP00000491954.1:n.1307-1737_1307-1735del
ENST00000640967.1:c.1418-2455_1418-2453del	ENSP00000492067.1:n.1418-2455_1418-2453del
ENST00000321341.9:c.1418-1737_1418-1735del	ENSP00000321070.5:n.1418-1737_1418-1735del
ENST00000382927.3:c.1417+5473_1417+5475del	ENSP00000372384.2:n.1417+5473_1417+5475del
ENST00000585680.1:n.143-2455_143-2453del
NM_001168335.1:c.1417+5473_1417+5475del	NP_001161807.1:n.1417+5473_1417+5475del
NM_002396.4:c.1418-1737_1418-1735del	NP_002387.1:n.1418-1737_1418-1735del
XR_935223.1:n.2135-2455_2135-2453del
XR_935223.2:n.2037-2455_2037-2453del
NM_002396.5:c.1418-1737_1418-1735del MANE Select	NP_002387.1:n.1418-1737_1418-1735del
NM_001168335.2:c.1417+5473_1417+5475del	NP_001161807.1:n.1417+5473_1417+5475del
NR_174094.1:n.1621-2455_1621-2453del