Canonical Allele Identifier: CA119999885
Community Standard Title: NM_022132.5(MCCC2):c.1149+173_1149+176dup
Gene: MCCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71644068_71644071dup , CM000667.2:g.71644068_71644071dup GRCh38
NC_000005.9:g.70939895_70939898dup , CM000667.1:g.70939895_70939898dup GRCh37
NC_000005.8:g.70975651_70975654dup NCBI36
NG_008882.1:g.61781_61784dup

Transcript Alleles

HGVS Amino-acid Change
NM_022132.5:c.1149+173_1149+176dup MANE Select NP_071415.1:n.1149+173_1149+176dup
ENST00000340941.11:c.1149+173_1149+176dup MANE Select ENSP00000343657.6:n.1149+173_1149+176dup
NM_001363147.1:c.1035+173_1035+176dup NP_001350076.1:n.1035+173_1035+176dup
NM_022132.4:c.1149+173_1149+176dup NP_071415.1:n.1149+173_1149+176dup
ENST00000340941.10:c.1149+173_1149+176dup ENSP00000343657.6:n.1149+173_1149+176dup
ENST00000505435.4:n.2757+173_2757+176dup
ENST00000505787.8:n.2980+173_2980+176dup
ENST00000509539.2:c.465+173_465+176dup ENSP00000425474.2:n.465+173_465+176dup
ENST00000509539.3:c.475+173_475+176dup ENSP00000425474.3:n.475+173_475+176dup
ENST00000512218.6:c.*101+173_*101+176dup ENSP00000423202.2:n.*101+173_*101+176dup
ENST00000681968.1:c.642+173_642+176dup ENSP00000508143.1:n.642+173_642+176dup
ENST00000681991.1:n.1233+173_1233+176dup
ENST00000682045.1:c.1005+173_1005+176dup ENSP00000507329.1:n.1005+173_1005+176dup
ENST00000682214.1:c.756+173_756+176dup ENSP00000507336.1:n.756+173_756+176dup
ENST00000682231.1:n.167+173_167+176dup
ENST00000682438.1:n.1006_1009dup
ENST00000682499.1:n.1970+173_1970+176dup
ENST00000682541.1:c.*47+173_*47+176dup ENSP00000507673.1:n.*47+173_*47+176dup
ENST00000682640.1:n.853+173_853+176dup
ENST00000682667.1:n.1314+173_1314+176dup
ENST00000682687.1:c.*101+173_*101+176dup ENSP00000507945.1:n.*101+173_*101+176dup
ENST00000682727.1:c.1140+173_1140+176dup ENSP00000507393.1:n.1140+173_1140+176dup
ENST00000682876.1:c.1278+173_1278+176dup ENSP00000508389.1:n.1278+173_1278+176dup
ENST00000683098.1:c.804-2143_804-2140dup ENSP00000507670.1:n.804-2143_804-2140dup
ENST00000683258.1:c.*870+173_*870+176dup ENSP00000507448.1:n.*870+173_*870+176dup
ENST00000683339.1:c.933+173_933+176dup ENSP00000507758.1:n.933+173_933+176dup
ENST00000683403.1:c.1059+173_1059+176dup ENSP00000507896.1:n.1059+173_1059+176dup
ENST00000683429.1:c.756+173_756+176dup ENSP00000507697.1:n.756+173_756+176dup
ENST00000683789.1:c.1035+173_1035+176dup ENSP00000507012.1:n.1035+173_1035+176dup
ENST00000683847.1:n.1319+173_1319+176dup
ENST00000683882.1:c.*90+173_*90+176dup ENSP00000506735.1:n.*90+173_*90+176dup
ENST00000684024.1:c.*820+173_*820+176dup ENSP00000507175.1:n.*820+173_*820+176dup
ENST00000684132.1:c.77+173_77+176dup
ENST00000684254.1:c.*875+173_*875+176dup ENSP00000508001.1:n.*875+173_*875+176dup
ENST00000684310.1:c.315+173_315+176dup ENSP00000507550.1:n.315+173_315+176dup
ENST00000684474.1:n.785+173_785+176dup
ENST00000684530.1:c.334+2993_334+2996dup ENSP00000507439.1:n.334+2993_334+2996dup
ENST00000684686.1:n.768+173_768+176dup
XM_005248567.1:c.1035+173_1035+176dup XP_005248624.1:n.1035+173_1035+176dup
XR_001742172.1:n.1237+173_1237+176dup