Canonical Allele Identifier: CA2674167246
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71646218_71646221del , CM000667.2:g.71646218_71646221del GRCh38
NC_000005.9:g.70942045_70942048del , CM000667.1:g.70942045_70942048del GRCh37
NC_000005.8:g.70977801_70977804del NCBI36
NG_008882.1:g.63931_63934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.2765_2768del
ENST00000505787.8:n.2988_2991del
ENST00000509539.3:c.483_486del ENSP00000425474.3:n.483_486del
ENST00000681968.1:c.650_653del ENSP00000508143.1:p.His217LeufsTer?
ENST00000681991.1:n.1241_1244del
ENST00000682045.1:c.1013_1016del ENSP00000507329.1:p.His338LeufsTer?
ENST00000682214.1:c.764_767del ENSP00000507336.1:p.His255LeufsTer?
ENST00000682231.1:n.175_178del
ENST00000682438.1:n.3156_3159del
ENST00000682499.1:n.1978_1981del
ENST00000682541.1:c.*55_*58del ENSP00000507673.1:n.*55_*58del
ENST00000682640.1:n.861_864del
ENST00000682667.1:n.1322_1325del
ENST00000682687.1:c.*109_*112del ENSP00000507945.1:n.*109_*112del
ENST00000682727.1:c.1148_1151del ENSP00000507393.1:p.His383LeufsTer?
ENST00000682876.1:c.1286_1289del ENSP00000508389.1:p.His429LeufsTer?
ENST00000683098.1:c.811_814del ENSP00000507670.1:p.Thr271CysfsTer24
ENST00000683258.1:c.*878_*881del ENSP00000507448.1:n.*878_*881del
ENST00000683339.1:c.941_944del ENSP00000507758.1:p.His314LeufsTer?
ENST00000683403.1:c.1067_1070del ENSP00000507896.1:p.His356LeufsTer?
ENST00000683429.1:c.764_767del ENSP00000507697.1:p.His255LeufsTer?
ENST00000683789.1:c.1043_1046del ENSP00000507012.1:p.His348LeufsTer?
ENST00000683847.1:n.1327_1330del
ENST00000683882.1:c.*98_*101del ENSP00000506735.1:n.*98_*101del
ENST00000684024.1:c.*828_*831del ENSP00000507175.1:n.*828_*831del
ENST00000684132.1:c.85_88del
ENST00000684254.1:c.*883_*886del ENSP00000508001.1:n.*883_*886del
ENST00000684310.1:c.323_326del ENSP00000507550.1:p.His108LeufsTer?
ENST00000684474.1:n.793_796del
ENST00000684530.1:c.335-2879_335-2876del ENSP00000507439.1:n.335-2879_335-2876del
ENST00000684686.1:n.776_779del
ENST00000340941.11:c.1157_1160del MANE Select ENSP00000343657.6:p.His386LeufsTer?
ENST00000340941.10:c.1157_1160del ENSP00000343657.6:p.His386LeufsTer?
ENST00000509539.2:c.473_476del ENSP00000425474.2:p.His158LeufsTer?
ENST00000512218.6:c.*109_*112del ENSP00000423202.2:n.*109_*112del
NM_022132.4:c.1157_1160del NP_071415.1:p.His386LeufsTer?
XM_005248567.1:c.1043_1046del XP_005248624.1:p.His348LeufsTer?
NM_001363147.1:c.1043_1046del NP_001350076.1:p.His348LeufsTer?
XR_001742172.1:n.1245_1248del
NM_022132.5:c.1157_1160del MANE Select NP_071415.1:p.His386LeufsTer?