Canonical Allele Identifier: CA16613652
Gene: MTMR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406679
dbSNP Id: rs1555057316

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95838151_95838152dup , CM000673.2:g.95838151_95838152dup GRCh38
NC_000011.9:g.95571315_95571316dup , CM000673.1:g.95571315_95571316dup GRCh37
NC_000011.8:g.95210963_95210964dup NCBI36
NG_008333.1:g.91058_91059dup , LRG_257:g.91058_91059dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000346299.10:c.1537_1538dup MANE Select ENSP00000345752.6:p.Ser514ThrfsTer?
ENST00000393223.8:c.1321_1322dup ENSP00000376915.3:p.Ser442ThrfsTer?
ENST00000444541.7:c.1321_1322dup ENSP00000396020.2:p.Ser442ThrfsTer?
ENST00000470293.6:c.1321_1322dup ENSP00000502515.1:p.Ser442ThrfsTer?
ENST00000481642.6:c.1321_1322dup ENSP00000502505.1:p.Ser442ThrfsTer?
ENST00000484818.6:c.1321_1322dup ENSP00000501963.1:p.Ser442ThrfsTer?
ENST00000495134.6:c.1321_1322dup ENSP00000501894.1:p.Ser442ThrfsTer?
ENST00000497683.6:c.1321_1322dup ENSP00000501753.1:p.Ser442ThrfsTer?
ENST00000674528.1:c.1321_1322dup ENSP00000501567.1:p.Ser442ThrfsTer?
ENST00000674610.1:c.1321_1322dup ENSP00000501688.1:p.Ser442ThrfsTer?
ENST00000674901.1:n.2675_2676dup
ENST00000674924.1:c.1321_1322dup ENSP00000502433.1:p.Ser442ThrfsTer?
ENST00000674950.1:c.*1726_*1727dup ENSP00000502425.1:n.*1726_*1727dup
ENST00000674968.1:c.1321_1322dup ENSP00000502567.1:p.Ser442ThrfsTer?
ENST00000674974.1:c.*1472_*1473dup ENSP00000502337.1:n.*1472_*1473dup
ENST00000674989.1:c.1321_1322dup ENSP00000502829.1:p.Ser442ThrfsTer?
ENST00000675022.1:c.1351_1352dup ENSP00000502722.1:p.Ser452ThrfsTer?
ENST00000675024.1:n.2708_2709dup
ENST00000675030.1:c.*4706_*4707dup ENSP00000502386.1:n.*4706_*4707dup
ENST00000675034.1:n.2696_2697dup
ENST00000675174.1:c.1321_1322dup ENSP00000502032.1:p.Ser442ThrfsTer?
ENST00000675196.1:c.1321_1322dup ENSP00000501867.1:p.Ser442ThrfsTer?
ENST00000675237.1:n.2700_2701dup
ENST00000675288.1:c.1189_1190dup ENSP00000501942.1:p.Ser398ThrfsTer?
ENST00000675320.1:c.*1334_*1335dup ENSP00000502076.1:n.*1334_*1335dup
ENST00000675362.1:c.1321_1322dup ENSP00000501989.1:p.Ser442ThrfsTer?
ENST00000675413.1:n.2498_2499dup
ENST00000675438.1:c.1228_1229dup ENSP00000502388.1:p.Ser411ThrfsTer?
ENST00000675454.1:c.1321_1322dup ENSP00000501781.1:p.Ser442ThrfsTer?
ENST00000675477.1:c.1321_1322dup ENSP00000501751.1:p.Ser442ThrfsTer?
ENST00000675489.1:c.1321_1322dup ENSP00000501702.1:p.Ser442ThrfsTer?
ENST00000675495.1:n.2609_2610dup
ENST00000675636.1:c.1321_1322dup ENSP00000501850.1:p.Ser442ThrfsTer?
ENST00000675652.1:c.1321_1322dup ENSP00000502694.1:p.Ser442ThrfsTer?
ENST00000675660.1:c.1189_1190dup ENSP00000502824.1:p.Ser398ThrfsTer?
ENST00000675767.1:n.2589_2590dup
ENST00000675807.1:c.1189_1190dup ENSP00000501640.1:p.Ser398ThrfsTer?
ENST00000675848.1:c.1189_1190dup ENSP00000502057.1:p.Ser398ThrfsTer?
ENST00000675896.1:c.*1450_*1451dup ENSP00000502487.1:n.*1450_*1451dup
ENST00000675910.1:c.*1475_*1476dup ENSP00000502622.1:n.*1475_*1476dup
ENST00000675922.1:c.*1428_*1429dup ENSP00000502168.1:n.*1428_*1429dup
ENST00000675933.1:c.1321_1322dup ENSP00000502575.1:p.Ser442ThrfsTer?
ENST00000675957.1:n.2599_2600dup
ENST00000675981.1:c.1321_1322dup ENSP00000502204.1:p.Ser442ThrfsTer?
ENST00000676027.1:c.1189_1190dup ENSP00000502405.1:p.Ser398ThrfsTer?
ENST00000676146.1:c.*1148_*1149dup ENSP00000502583.1:n.*1148_*1149dup
ENST00000676166.1:c.1321_1322dup ENSP00000501632.1:p.Ser442ThrfsTer?
ENST00000676177.1:c.*1450_*1451dup ENSP00000501635.1:n.*1450_*1451dup
ENST00000676261.1:c.1321_1322dup ENSP00000501675.1:p.Ser442ThrfsTer?
ENST00000676268.1:c.*855_*856dup ENSP00000502444.1:n.*855_*856dup
ENST00000676272.1:c.1321_1322dup ENSP00000501601.1:p.Ser442ThrfsTer?
ENST00000676378.1:c.1321_1322dup ENSP00000502736.1:p.Ser442ThrfsTer?
ENST00000676388.1:c.*1277_*1278dup ENSP00000501866.1:n.*1277_*1278dup
ENST00000676393.1:n.2573_2574dup
ENST00000676432.1:n.2739_2740dup
ENST00000676440.1:c.1321_1322dup ENSP00000501926.1:p.Ser442ThrfsTer?
ENST00000346299.9:c.1537_1538dup ENSP00000345752.5:p.Ser514ThrfsTer?
ENST00000352297.11:c.1321_1322dup ENSP00000343737.7:p.Ser442ThrfsTer?
ENST00000393223.7:c.1321_1322dup ENSP00000376915.3:p.Ser442ThrfsTer?
ENST00000409459.5:c.1321_1322dup ENSP00000386882.1:p.Ser442ThrfsTer?
ENST00000444541.6:c.1321_1322dup ENSP00000396020.1:p.Ser442ThrfsTer?
NM_001243571.1:c.1321_1322dup NP_001230500.1:p.Ser442ThrfsTer?
NM_016156.5:c.1537_1538dup , LRG_257t1:c.1537_1538dup NP_057240.3:p.Ser514ThrfsTer?
NM_201278.2:c.1321_1322dup NP_958435.1:p.Ser442ThrfsTer?
NM_201281.2:c.1321_1322dup NP_958438.1:p.Ser442ThrfsTer?
XM_005274374.1:c.1321_1322dup XP_005274431.1:p.Ser442ThrfsTer?
XM_005274375.1:c.1321_1322dup XP_005274432.1:p.Ser442ThrfsTer?
XM_006718934.1:c.1321_1322dup XP_006718997.1:p.Ser442ThrfsTer?
XM_006718935.1:c.1321_1322dup XP_006718998.1:p.Ser442ThrfsTer?
XM_006718936.2:c.1321_1322dup XP_006718999.1:p.Ser442ThrfsTer?
XM_011543058.1:c.1396_1397dup XP_011541360.1:p.Ser467ThrfsTer?
XM_011543059.1:c.1396_1397dup XP_011541361.1:p.Ser467ThrfsTer?
XM_005274374.3:c.1321_1322dup XP_005274431.1:p.Ser442ThrfsTer?
XM_005274375.3:c.1321_1322dup XP_005274432.1:p.Ser442ThrfsTer?
NM_001243571.2:c.1321_1322dup NP_001230500.1:p.Ser442ThrfsTer?
NM_016156.6:c.1537_1538dup MANE Select NP_057240.3:p.Ser514ThrfsTer?
NM_201278.3:c.1321_1322dup NP_958435.1:p.Ser442ThrfsTer?
NM_201281.3:c.1321_1322dup NP_958438.1:p.Ser442ThrfsTer?