Canonical Allele Identifier: CA2674167245
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71646215del , CM000667.2:g.71646215del GRCh38
NC_000005.9:g.70942042del , CM000667.1:g.70942042del GRCh37
NC_000005.8:g.70977798del NCBI36
NG_008882.1:g.63928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.2762del
ENST00000505787.8:n.2985del
ENST00000509539.3:c.480del ENSP00000425474.3:n.480del
ENST00000681968.1:c.647del ENSP00000508143.1:p.Thr216IlefsTer?
ENST00000681991.1:n.1238del
ENST00000682045.1:c.1010del ENSP00000507329.1:p.Thr337IlefsTer?
ENST00000682214.1:c.761del ENSP00000507336.1:p.Thr254IlefsTer?
ENST00000682231.1:n.172del
ENST00000682438.1:n.3153del
ENST00000682499.1:n.1975del
ENST00000682541.1:c.*52del ENSP00000507673.1:n.*52del
ENST00000682640.1:n.858del
ENST00000682667.1:n.1319del
ENST00000682687.1:c.*106del ENSP00000507945.1:n.*106del
ENST00000682727.1:c.1145del ENSP00000507393.1:p.Thr382IlefsTer?
ENST00000682876.1:c.1283del ENSP00000508389.1:p.Thr428IlefsTer?
ENST00000683098.1:c.808del ENSP00000507670.1:p.Leu270SerfsTer26
ENST00000683258.1:c.*875del ENSP00000507448.1:n.*875del
ENST00000683339.1:c.938del ENSP00000507758.1:p.Thr313IlefsTer?
ENST00000683403.1:c.1064del ENSP00000507896.1:p.Thr355IlefsTer?
ENST00000683429.1:c.761del ENSP00000507697.1:p.Thr254IlefsTer?
ENST00000683789.1:c.1040del ENSP00000507012.1:p.Thr347IlefsTer?
ENST00000683847.1:n.1324del
ENST00000683882.1:c.*95del ENSP00000506735.1:n.*95del
ENST00000684024.1:c.*825del ENSP00000507175.1:n.*825del
ENST00000684132.1:c.82del
ENST00000684254.1:c.*880del ENSP00000508001.1:n.*880del
ENST00000684310.1:c.320del ENSP00000507550.1:p.Thr107IlefsTer?
ENST00000684474.1:n.790del
ENST00000684530.1:c.335-2882del ENSP00000507439.1:n.335-2882del
ENST00000684686.1:n.773del
ENST00000340941.11:c.1154del MANE Select ENSP00000343657.6:p.Thr385IlefsTer?
ENST00000340941.10:c.1154del ENSP00000343657.6:p.Thr385IlefsTer?
ENST00000509539.2:c.470del ENSP00000425474.2:p.Thr157IlefsTer?
ENST00000512218.6:c.*106del ENSP00000423202.2:n.*106del
NM_022132.4:c.1154del NP_071415.1:p.Thr385IlefsTer?
XM_005248567.1:c.1040del XP_005248624.1:p.Thr347IlefsTer?
NM_001363147.1:c.1040del NP_001350076.1:p.Thr347IlefsTer?
XR_001742172.1:n.1242del
NM_022132.5:c.1154del MANE Select NP_071415.1:p.Thr385IlefsTer?