Canonical Allele Identifier: CA2574955739
Gene: MTMR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95858543_95858544del , CM000673.2:g.95858543_95858544del GRCh38
NC_000011.9:g.95591707_95591708del , CM000673.1:g.95591707_95591708del GRCh37
NC_000011.8:g.95231355_95231356del NCBI36
NG_008333.1:g.70667_70668del , LRG_257:g.70667_70668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000346299.10:c.560_561del MANE Select ENSP00000345752.6:p.Ser187Ter
ENST00000393223.8:c.344_345del ENSP00000376915.3:p.Ser115Ter
ENST00000444541.7:c.344_345del ENSP00000396020.2:p.Ser115Ter
ENST00000470293.6:c.344_345del ENSP00000502515.1:p.Ser115Ter
ENST00000481642.6:c.344_345del ENSP00000502505.1:p.Ser115Ter
ENST00000484818.6:c.344_345del ENSP00000501963.1:p.Ser115Ter
ENST00000495134.6:c.344_345del ENSP00000501894.1:p.Ser115Ter
ENST00000497683.6:c.344_345del ENSP00000501753.1:p.Ser115Ter
ENST00000674528.1:c.344_345del ENSP00000501567.1:p.Ser115Ter
ENST00000674610.1:c.344_345del ENSP00000501688.1:p.Ser115Ter
ENST00000674901.1:n.803_804del
ENST00000674924.1:c.344_345del ENSP00000502433.1:p.Ser115Ter
ENST00000674950.1:c.*357_*358del ENSP00000502425.1:n.*357_*358del
ENST00000674968.1:c.344_345del ENSP00000502567.1:p.Ser115Ter
ENST00000674974.1:c.*495_*496del ENSP00000502337.1:n.*495_*496del
ENST00000674989.1:c.344_345del ENSP00000502829.1:p.Ser115Ter
ENST00000675022.1:c.468+3451_468+3452del ENSP00000502722.1:n.468+3451_468+3452del
ENST00000675024.1:n.836_837del
ENST00000675030.1:c.*3729_*3730del ENSP00000502386.1:n.*3729_*3730del
ENST00000675034.1:n.824_825del
ENST00000675174.1:c.344_345del ENSP00000502032.1:p.Ser115Ter
ENST00000675196.1:c.344_345del ENSP00000501867.1:p.Ser115Ter
ENST00000675237.1:n.828_829del
ENST00000675288.1:c.212_213del ENSP00000501942.1:p.Ser71Ter
ENST00000675320.1:c.*357_*358del ENSP00000502076.1:n.*357_*358del
ENST00000675362.1:c.344_345del ENSP00000501989.1:p.Ser115Ter
ENST00000675413.1:n.626_627del
ENST00000675438.1:c.344_345del ENSP00000502388.1:p.Ser115Ter
ENST00000675454.1:c.344_345del ENSP00000501781.1:p.Ser115Ter
ENST00000675477.1:c.344_345del ENSP00000501751.1:p.Ser115Ter
ENST00000675489.1:c.344_345del ENSP00000501702.1:p.Ser115Ter
ENST00000675495.1:n.737_738del
ENST00000675636.1:c.344_345del ENSP00000501850.1:p.Ser115Ter
ENST00000675652.1:c.344_345del ENSP00000502694.1:p.Ser115Ter
ENST00000675660.1:c.212_213del ENSP00000502824.1:p.Ser71Ter
ENST00000675767.1:n.717_718del
ENST00000675807.1:c.212_213del ENSP00000501640.1:p.Ser71Ter
ENST00000675848.1:c.212_213del ENSP00000502057.1:p.Ser71Ter
ENST00000675896.1:c.*473_*474del ENSP00000502487.1:n.*473_*474del
ENST00000675910.1:c.*498_*499del ENSP00000502622.1:n.*498_*499del
ENST00000675922.1:c.*451_*452del ENSP00000502168.1:n.*451_*452del
ENST00000675933.1:c.344_345del ENSP00000502575.1:p.Ser115Ter
ENST00000675957.1:n.727_728del
ENST00000675981.1:c.344_345del ENSP00000502204.1:p.Ser115Ter
ENST00000676027.1:c.212_213del ENSP00000502405.1:p.Ser71Ter
ENST00000676146.1:c.*265+3451_*265+3452del ENSP00000502583.1:n.*265+3451_*265+3452del
ENST00000676166.1:c.344_345del ENSP00000501632.1:p.Ser115Ter
ENST00000676177.1:c.*473_*474del ENSP00000501635.1:n.*473_*474del
ENST00000676261.1:c.344_345del ENSP00000501675.1:p.Ser115Ter
ENST00000676268.1:c.560_561del ENSP00000502444.1:p.Ser187Ter
ENST00000676272.1:c.344_345del ENSP00000501601.1:p.Ser115Ter
ENST00000676378.1:c.344_345del ENSP00000502736.1:p.Ser115Ter
ENST00000676388.1:c.*300_*301del ENSP00000501866.1:n.*300_*301del
ENST00000676393.1:n.701_702del
ENST00000676432.1:n.867_868del
ENST00000676440.1:c.344_345del ENSP00000501926.1:p.Ser115Ter
ENST00000346299.9:c.560_561del ENSP00000345752.5:p.Ser187Ter
ENST00000352297.11:c.344_345del ENSP00000343737.7:p.Ser115Ter
ENST00000393223.7:c.344_345del ENSP00000376915.3:p.Ser115Ter
ENST00000409459.5:c.344_345del ENSP00000386882.1:p.Ser115Ter
ENST00000444541.6:c.344_345del ENSP00000396020.1:p.Ser115Ter
ENST00000484818.5:n.607_608del
NM_001243571.1:c.344_345del NP_001230500.1:p.Ser115Ter
NM_016156.5:c.560_561del , LRG_257t1:c.560_561del NP_057240.3:p.Ser187Ter
NM_201278.2:c.344_345del NP_958435.1:p.Ser115Ter
NM_201281.2:c.344_345del NP_958438.1:p.Ser115Ter
XM_005274374.1:c.344_345del XP_005274431.1:p.Ser115Ter
XM_005274375.1:c.344_345del XP_005274432.1:p.Ser115Ter
XM_006718934.1:c.344_345del XP_006718997.1:p.Ser115Ter
XM_006718935.1:c.344_345del XP_006718998.1:p.Ser115Ter
XM_006718936.2:c.344_345del XP_006718999.1:p.Ser115Ter
XM_011543058.1:c.419_420del XP_011541360.1:p.Ser140Ter
XM_011543059.1:c.419_420del XP_011541361.1:p.Ser140Ter
XM_005274374.3:c.344_345del XP_005274431.1:p.Ser115Ter
XM_005274375.3:c.344_345del XP_005274432.1:p.Ser115Ter
NM_001243571.2:c.344_345del NP_001230500.1:p.Ser115Ter
NM_016156.6:c.560_561del MANE Select NP_057240.3:p.Ser187Ter
NM_201278.3:c.344_345del NP_958435.1:p.Ser115Ter
NM_201281.3:c.344_345del NP_958438.1:p.Ser115Ter