Canonical Allele Identifier: CA1993045908
Community Standard Title: NM_016156.6(MTMR2):c.1444C= (p.Gln482=)
Gene: MTMR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95841652G= , CM000673.2:g.95841652G= GRCh38
NC_000011.9:g.95574816G= , CM000673.1:g.95574816G= GRCh37
NC_000011.8:g.95214464G= NCBI36
NG_008333.1:g.87556C= , LRG_257:g.87556C=

Transcript Alleles

HGVS Amino-acid Change
NM_016156.6:c.1444C= MANE Select NP_057240.3:p.Gln482=
ENST00000346299.10:c.1444C= MANE Select ENSP00000345752.6:p.Gln482=
NM_001243571.1:c.1228C= NP_001230500.1:p.Gln410=
NM_001243571.2:c.1228C= NP_001230500.1:p.Gln410=
NM_016156.5:c.1444C= , LRG_257t1:c.1444C= NP_057240.3:p.Gln482=
NM_201278.2:c.1228C= NP_958435.1:p.Gln410=
NM_201278.3:c.1228C= NP_958435.1:p.Gln410=
NM_201281.2:c.1228C= NP_958438.1:p.Gln410=
NM_201281.3:c.1228C= NP_958438.1:p.Gln410=
ENST00000346299.9:c.1444C= ENSP00000345752.5:p.Gln482=
ENST00000352297.11:c.1228C= ENSP00000343737.7:p.Gln410=
ENST00000393223.7:c.1228C= ENSP00000376915.3:p.Gln410=
ENST00000393223.8:c.1228C= ENSP00000376915.3:p.Gln410=
ENST00000409459.5:c.1228C= ENSP00000386882.1:p.Gln410=
ENST00000444541.6:c.1228C= ENSP00000396020.1:p.Gln410=
ENST00000444541.7:c.1228C= ENSP00000396020.2:p.Gln410=
ENST00000470293.6:c.1228C= ENSP00000502515.1:p.Gln410=
ENST00000481642.6:c.1228C= ENSP00000502505.1:p.Gln410=
ENST00000484818.6:c.1228C= ENSP00000501963.1:p.Gln410=
ENST00000495134.6:c.1228C= ENSP00000501894.1:p.Gln410=
ENST00000497683.6:c.1228C= ENSP00000501753.1:p.Gln410=
ENST00000674528.1:c.1228C= ENSP00000501567.1:p.Gln410=
ENST00000674610.1:c.1228C= ENSP00000501688.1:p.Gln410=
ENST00000674901.1:n.2582C=
ENST00000674924.1:c.1228C= ENSP00000502433.1:p.Gln410=
ENST00000674950.1:c.*1633C= ENSP00000502425.1:n.*1633C=
ENST00000674968.1:c.1228C= ENSP00000502567.1:p.Gln410=
ENST00000674974.1:c.*1379C= ENSP00000502337.1:n.*1379C=
ENST00000674989.1:c.1228C= ENSP00000502829.1:p.Gln410=
ENST00000675022.1:c.1258C= ENSP00000502722.1:p.Gln420=
ENST00000675024.1:n.2615C=
ENST00000675030.1:c.*4613C= ENSP00000502386.1:n.*4613C=
ENST00000675034.1:n.2603C=
ENST00000675174.1:c.1228C= ENSP00000502032.1:p.Gln410=
ENST00000675196.1:c.1228C= ENSP00000501867.1:p.Gln410=
ENST00000675237.1:n.2607C=
ENST00000675288.1:c.1096C= ENSP00000501942.1:p.Gln366=
ENST00000675320.1:c.*1241C= ENSP00000502076.1:n.*1241C=
ENST00000675362.1:c.1228C= ENSP00000501989.1:p.Gln410=
ENST00000675413.1:n.2405C=
ENST00000675438.1:c.1170+3301C= ENSP00000502388.1:n.1170+3301C=
ENST00000675454.1:c.1228C= ENSP00000501781.1:p.Gln410=
ENST00000675477.1:c.1228C= ENSP00000501751.1:p.Gln410=
ENST00000675489.1:c.1228C= ENSP00000501702.1:p.Gln410=
ENST00000675495.1:n.2516C=
ENST00000675636.1:c.1228C= ENSP00000501850.1:p.Gln410=
ENST00000675652.1:c.1228C= ENSP00000502694.1:p.Gln410=
ENST00000675660.1:c.1096C= ENSP00000502824.1:p.Gln366=
ENST00000675767.1:n.2496C=
ENST00000675807.1:c.1096C= ENSP00000501640.1:p.Gln366=
ENST00000675848.1:c.1096C= ENSP00000502057.1:p.Gln366=
ENST00000675896.1:c.*1357C= ENSP00000502487.1:n.*1357C=
ENST00000675910.1:c.*1382C= ENSP00000502622.1:n.*1382C=
ENST00000675922.1:c.*1335C= ENSP00000502168.1:n.*1335C=
ENST00000675933.1:c.1228C= ENSP00000502575.1:p.Gln410=
ENST00000675957.1:n.2506C=
ENST00000675981.1:c.1228C= ENSP00000502204.1:p.Gln410=
ENST00000676027.1:c.1096C= ENSP00000502405.1:p.Gln366=
ENST00000676146.1:c.*1055C= ENSP00000502583.1:n.*1055C=
ENST00000676166.1:c.1228C= ENSP00000501632.1:p.Gln410=
ENST00000676177.1:c.*1357C= ENSP00000501635.1:n.*1357C=
ENST00000676261.1:c.1228C= ENSP00000501675.1:p.Gln410=
ENST00000676268.1:c.*762C= ENSP00000502444.1:n.*762C=
ENST00000676272.1:c.1228C= ENSP00000501601.1:p.Gln410=
ENST00000676378.1:c.1228C= ENSP00000502736.1:p.Gln410=
ENST00000676388.1:c.*1184C= ENSP00000501866.1:n.*1184C=
ENST00000676393.1:n.2480C=
ENST00000676432.1:n.2646C=
ENST00000676440.1:c.1228C= ENSP00000501926.1:p.Gln410=
XM_005274374.1:c.1228C= XP_005274431.1:p.Gln410=
XM_005274374.3:c.1228C= XP_005274431.1:p.Gln410=
XM_005274375.1:c.1228C= XP_005274432.1:p.Gln410=
XM_005274375.3:c.1228C= XP_005274432.1:p.Gln410=
XM_006718934.1:c.1228C= XP_006718997.1:p.Gln410=
XM_006718935.1:c.1228C= XP_006718998.1:p.Gln410=
XM_006718936.2:c.1228C= XP_006718999.1:p.Gln410=
XM_011543058.1:c.1303C= XP_011541360.1:p.Gln435=
XM_011543059.1:c.1303C= XP_011541361.1:p.Gln435=