Canonical Allele Identifier: CA2674165844
Gene: MCCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71635194_71635198del , CM000667.2:g.71635194_71635198del GRCh38
NC_000005.9:g.70931021_70931025del , CM000667.1:g.70931021_70931025del GRCh37
NC_000005.8:g.70966777_70966781del NCBI36
NG_008882.1:g.52907_52911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000505435.4:n.903_907del
ENST00000505787.8:n.2787_2791del
ENST00000509358.7:c.947_951del ENSP00000420994.3:p.Glu316ValfsTer7
ENST00000509539.3:c.209_213del ENSP00000425474.3:p.Glu70ValfsTer7
ENST00000510895.7:n.1070_1074del
ENST00000629193.3:c.833_837del ENSP00000486535.2:p.Glu278ValfsTer7
ENST00000681968.1:c.440_444del ENSP00000508143.1:p.Glu147ValfsTer7
ENST00000682045.1:c.803_807del ENSP00000507329.1:p.Glu268ValfsTer7
ENST00000682214.1:c.554_558del ENSP00000507336.1:p.Glu185ValfsTer7
ENST00000682499.1:n.1768_1772del
ENST00000682541.1:c.947_951del ENSP00000507673.1:p.Glu316ValfsTer7
ENST00000682687.1:c.947_951del ENSP00000507945.1:p.Glu316ValfsTer7
ENST00000682727.1:c.947_951del ENSP00000507393.1:p.Glu316ValfsTer7
ENST00000682876.1:c.1076_1080del ENSP00000508389.1:p.Glu359ValfsTer7
ENST00000683098.1:c.803+3009_803+3013del ENSP00000507670.1:n.803+3009_803+3013del
ENST00000683258.1:c.*668_*672del ENSP00000507448.1:n.*668_*672del
ENST00000683339.1:c.731_735del ENSP00000507758.1:p.Glu244ValfsTer7
ENST00000683403.1:c.857_861del ENSP00000507896.1:p.Glu286ValfsTer7
ENST00000683429.1:c.554_558del ENSP00000507697.1:p.Glu185ValfsTer7
ENST00000683665.1:c.947_951del ENSP00000507068.1:p.Glu316ValfsTer7
ENST00000683789.1:c.833_837del ENSP00000507012.1:p.Glu278ValfsTer7
ENST00000683847.1:n.791_795del
ENST00000683882.1:c.947_951del ENSP00000506735.1:p.Glu316ValfsTer7
ENST00000684024.1:c.*618_*622del ENSP00000507175.1:n.*618_*622del
ENST00000684254.1:c.*673_*677del ENSP00000508001.1:n.*673_*677del
ENST00000684310.1:c.165+152_165+156del ENSP00000507550.1:n.165+152_165+156del
ENST00000684530.1:c.209_213del ENSP00000507439.1:p.Glu70ValfsTer7
ENST00000684652.1:n.1949_1953del
ENST00000340941.11:c.947_951del MANE Select ENSP00000343657.6:p.Glu316ValfsTer7
ENST00000340941.10:c.947_951del ENSP00000343657.6:p.Glu316ValfsTer7
ENST00000505435.3:n.298_302del
ENST00000509358.6:c.947_951del ENSP00000420994.2:p.Glu316ValfsTer7
ENST00000509539.2:c.272_276del ENSP00000425474.2:p.Glu91ValfsTer7
ENST00000510895.6:n.561_565del
ENST00000512218.6:c.833_837del ENSP00000423202.2:p.Glu278ValfsTer7
ENST00000629193.2:c.833_837del ENSP00000486535.1:p.Glu278ValfsTer7
NM_022132.4:c.947_951del NP_071415.1:p.Glu316ValfsTer7
XM_005248567.1:c.833_837del XP_005248624.1:p.Glu278ValfsTer7
XM_011543528.1:c.947_951del XP_011541830.1:p.Glu316ValfsTer7
XM_011543529.1:c.947_951del XP_011541831.1:p.Glu316ValfsTer7
NM_001363147.1:c.833_837del NP_001350076.1:p.Glu278ValfsTer7
XM_011543529.2:c.947_951del XP_011541831.1:p.Glu316ValfsTer7
XM_017009688.1:c.947_951del XP_016865177.1:p.Glu316ValfsTer7
XR_001742172.1:n.987_991del
NM_022132.5:c.947_951del MANE Select NP_071415.1:p.Glu316ValfsTer7