Canonical Allele Identifier: CA382428493
Gene: MTMR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95858585T>A , CM000673.2:g.95858585T>A GRCh38
NC_000011.9:g.95591749T>A , CM000673.1:g.95591749T>A GRCh37
NC_000011.8:g.95231397T>A NCBI36
NG_008333.1:g.70623A>T , LRG_257:g.70623A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346299.10:c.516A>T MANE Select ENSP00000345752.6:p.Arg172Ser
ENST00000393223.8:c.300A>T ENSP00000376915.3:p.Arg100Ser
ENST00000444541.7:c.300A>T ENSP00000396020.2:p.Arg100Ser
ENST00000470293.6:c.300A>T ENSP00000502515.1:p.Arg100Ser
ENST00000481642.6:c.300A>T ENSP00000502505.1:p.Arg100Ser
ENST00000484818.6:c.300A>T ENSP00000501963.1:p.Arg100Ser
ENST00000495134.6:c.300A>T ENSP00000501894.1:p.Arg100Ser
ENST00000497683.6:c.300A>T ENSP00000501753.1:p.Arg100Ser
ENST00000674528.1:c.300A>T ENSP00000501567.1:p.Arg100Ser
ENST00000674610.1:c.300A>T ENSP00000501688.1:p.Arg100Ser
ENST00000674901.1:n.759A>T
ENST00000674924.1:c.300A>T ENSP00000502433.1:p.Arg100Ser
ENST00000674950.1:c.*313A>T ENSP00000502425.1:n.*313A>T
ENST00000674968.1:c.300A>T ENSP00000502567.1:p.Arg100Ser
ENST00000674974.1:c.*451A>T ENSP00000502337.1:n.*451A>T
ENST00000674989.1:c.300A>T ENSP00000502829.1:p.Arg100Ser
ENST00000675022.1:c.468+3407A>T ENSP00000502722.1:n.468+3407A>T
ENST00000675024.1:n.792A>T
ENST00000675030.1:c.*3685A>T ENSP00000502386.1:n.*3685A>T
ENST00000675034.1:n.780A>T
ENST00000675174.1:c.300A>T ENSP00000502032.1:p.Arg100Ser
ENST00000675196.1:c.300A>T ENSP00000501867.1:p.Arg100Ser
ENST00000675237.1:n.784A>T
ENST00000675288.1:c.168A>T ENSP00000501942.1:p.Arg56Ser
ENST00000675320.1:c.*313A>T ENSP00000502076.1:n.*313A>T
ENST00000675362.1:c.300A>T ENSP00000501989.1:p.Arg100Ser
ENST00000675413.1:n.582A>T
ENST00000675438.1:c.300A>T ENSP00000502388.1:p.Arg100Ser
ENST00000675454.1:c.300A>T ENSP00000501781.1:p.Arg100Ser
ENST00000675477.1:c.300A>T ENSP00000501751.1:p.Arg100Ser
ENST00000675489.1:c.300A>T ENSP00000501702.1:p.Arg100Ser
ENST00000675495.1:n.693A>T
ENST00000675636.1:c.300A>T ENSP00000501850.1:p.Arg100Ser
ENST00000675652.1:c.300A>T ENSP00000502694.1:p.Arg100Ser
ENST00000675660.1:c.168A>T ENSP00000502824.1:p.Arg56Ser
ENST00000675767.1:n.673A>T
ENST00000675807.1:c.168A>T ENSP00000501640.1:p.Arg56Ser
ENST00000675848.1:c.168A>T ENSP00000502057.1:p.Arg56Ser
ENST00000675896.1:c.*429A>T ENSP00000502487.1:n.*429A>T
ENST00000675910.1:c.*454A>T ENSP00000502622.1:n.*454A>T
ENST00000675922.1:c.*407A>T ENSP00000502168.1:n.*407A>T
ENST00000675933.1:c.300A>T ENSP00000502575.1:p.Arg100Ser
ENST00000675957.1:n.683A>T
ENST00000675981.1:c.300A>T ENSP00000502204.1:p.Arg100Ser
ENST00000676027.1:c.168A>T ENSP00000502405.1:p.Arg56Ser
ENST00000676146.1:c.*265+3407A>T ENSP00000502583.1:n.*265+3407A>T
ENST00000676166.1:c.300A>T ENSP00000501632.1:p.Arg100Ser
ENST00000676177.1:c.*429A>T ENSP00000501635.1:n.*429A>T
ENST00000676261.1:c.300A>T ENSP00000501675.1:p.Arg100Ser
ENST00000676268.1:c.516A>T ENSP00000502444.1:p.Arg172Ser
ENST00000676272.1:c.300A>T ENSP00000501601.1:p.Arg100Ser
ENST00000676378.1:c.300A>T ENSP00000502736.1:p.Arg100Ser
ENST00000676388.1:c.*256A>T ENSP00000501866.1:n.*256A>T
ENST00000676393.1:n.657A>T
ENST00000676432.1:n.823A>T
ENST00000676440.1:c.300A>T ENSP00000501926.1:p.Arg100Ser
ENST00000346299.9:c.516A>T ENSP00000345752.5:p.Arg172Ser
ENST00000352297.11:c.300A>T ENSP00000343737.7:p.Arg100Ser
ENST00000393223.7:c.300A>T ENSP00000376915.3:p.Arg100Ser
ENST00000409459.5:c.300A>T ENSP00000386882.1:p.Arg100Ser
ENST00000444541.6:c.300A>T ENSP00000396020.1:p.Arg100Ser
ENST00000484818.5:n.563A>T
NM_001243571.1:c.300A>T NP_001230500.1:p.Arg100Ser
NM_016156.5:c.516A>T , LRG_257t1:c.516A>T NP_057240.3:p.Arg172Ser
NM_201278.2:c.300A>T NP_958435.1:p.Arg100Ser
NM_201281.2:c.300A>T NP_958438.1:p.Arg100Ser
XM_005274374.1:c.300A>T XP_005274431.1:p.Arg100Ser
XM_005274375.1:c.300A>T XP_005274432.1:p.Arg100Ser
XM_006718934.1:c.300A>T XP_006718997.1:p.Arg100Ser
XM_006718935.1:c.300A>T XP_006718998.1:p.Arg100Ser
XM_006718936.2:c.300A>T XP_006718999.1:p.Arg100Ser
XM_011543058.1:c.375A>T XP_011541360.1:p.Arg125Ser
XM_011543059.1:c.375A>T XP_011541361.1:p.Arg125Ser
XM_005274374.3:c.300A>T XP_005274431.1:p.Arg100Ser
XM_005274375.3:c.300A>T XP_005274432.1:p.Arg100Ser
NM_001243571.2:c.300A>T NP_001230500.1:p.Arg100Ser
NM_016156.6:c.516A>T MANE Select NP_057240.3:p.Arg172Ser
NM_201278.3:c.300A>T NP_958435.1:p.Arg100Ser
NM_201281.3:c.300A>T NP_958438.1:p.Arg100Ser