Canonical Allele Identifier: CA382428400
Gene: MTMR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95858569T>G , CM000673.2:g.95858569T>G GRCh38
NC_000011.9:g.95591733T>G , CM000673.1:g.95591733T>G GRCh37
NC_000011.8:g.95231381T>G NCBI36
NG_008333.1:g.70639A>C , LRG_257:g.70639A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346299.10:c.532A>C MANE Select ENSP00000345752.6:p.Asn178His
ENST00000393223.8:c.316A>C ENSP00000376915.3:p.Asn106His
ENST00000444541.7:c.316A>C ENSP00000396020.2:p.Asn106His
ENST00000470293.6:c.316A>C ENSP00000502515.1:p.Asn106His
ENST00000481642.6:c.316A>C ENSP00000502505.1:p.Asn106His
ENST00000484818.6:c.316A>C ENSP00000501963.1:p.Asn106His
ENST00000495134.6:c.316A>C ENSP00000501894.1:p.Asn106His
ENST00000497683.6:c.316A>C ENSP00000501753.1:p.Asn106His
ENST00000674528.1:c.316A>C ENSP00000501567.1:p.Asn106His
ENST00000674610.1:c.316A>C ENSP00000501688.1:p.Asn106His
ENST00000674901.1:n.775A>C
ENST00000674924.1:c.316A>C ENSP00000502433.1:p.Asn106His
ENST00000674950.1:c.*329A>C ENSP00000502425.1:n.*329A>C
ENST00000674968.1:c.316A>C ENSP00000502567.1:p.Asn106His
ENST00000674974.1:c.*467A>C ENSP00000502337.1:n.*467A>C
ENST00000674989.1:c.316A>C ENSP00000502829.1:p.Asn106His
ENST00000675022.1:c.468+3423A>C ENSP00000502722.1:n.468+3423A>C
ENST00000675024.1:n.808A>C
ENST00000675030.1:c.*3701A>C ENSP00000502386.1:n.*3701A>C
ENST00000675034.1:n.796A>C
ENST00000675174.1:c.316A>C ENSP00000502032.1:p.Asn106His
ENST00000675196.1:c.316A>C ENSP00000501867.1:p.Asn106His
ENST00000675237.1:n.800A>C
ENST00000675288.1:c.184A>C ENSP00000501942.1:p.Asn62His
ENST00000675320.1:c.*329A>C ENSP00000502076.1:n.*329A>C
ENST00000675362.1:c.316A>C ENSP00000501989.1:p.Asn106His
ENST00000675413.1:n.598A>C
ENST00000675438.1:c.316A>C ENSP00000502388.1:p.Asn106His
ENST00000675454.1:c.316A>C ENSP00000501781.1:p.Asn106His
ENST00000675477.1:c.316A>C ENSP00000501751.1:p.Asn106His
ENST00000675489.1:c.316A>C ENSP00000501702.1:p.Asn106His
ENST00000675495.1:n.709A>C
ENST00000675636.1:c.316A>C ENSP00000501850.1:p.Asn106His
ENST00000675652.1:c.316A>C ENSP00000502694.1:p.Asn106His
ENST00000675660.1:c.184A>C ENSP00000502824.1:p.Asn62His
ENST00000675767.1:n.689A>C
ENST00000675807.1:c.184A>C ENSP00000501640.1:p.Asn62His
ENST00000675848.1:c.184A>C ENSP00000502057.1:p.Asn62His
ENST00000675896.1:c.*445A>C ENSP00000502487.1:n.*445A>C
ENST00000675910.1:c.*470A>C ENSP00000502622.1:n.*470A>C
ENST00000675922.1:c.*423A>C ENSP00000502168.1:n.*423A>C
ENST00000675933.1:c.316A>C ENSP00000502575.1:p.Asn106His
ENST00000675957.1:n.699A>C
ENST00000675981.1:c.316A>C ENSP00000502204.1:p.Asn106His
ENST00000676027.1:c.184A>C ENSP00000502405.1:p.Asn62His
ENST00000676146.1:c.*265+3423A>C ENSP00000502583.1:n.*265+3423A>C
ENST00000676166.1:c.316A>C ENSP00000501632.1:p.Asn106His
ENST00000676177.1:c.*445A>C ENSP00000501635.1:n.*445A>C
ENST00000676261.1:c.316A>C ENSP00000501675.1:p.Asn106His
ENST00000676268.1:c.532A>C ENSP00000502444.1:p.Asn178His
ENST00000676272.1:c.316A>C ENSP00000501601.1:p.Asn106His
ENST00000676378.1:c.316A>C ENSP00000502736.1:p.Asn106His
ENST00000676388.1:c.*272A>C ENSP00000501866.1:n.*272A>C
ENST00000676393.1:n.673A>C
ENST00000676432.1:n.839A>C
ENST00000676440.1:c.316A>C ENSP00000501926.1:p.Asn106His
ENST00000346299.9:c.532A>C ENSP00000345752.5:p.Asn178His
ENST00000352297.11:c.316A>C ENSP00000343737.7:p.Asn106His
ENST00000393223.7:c.316A>C ENSP00000376915.3:p.Asn106His
ENST00000409459.5:c.316A>C ENSP00000386882.1:p.Asn106His
ENST00000444541.6:c.316A>C ENSP00000396020.1:p.Asn106His
ENST00000484818.5:n.579A>C
NM_001243571.1:c.316A>C NP_001230500.1:p.Asn106His
NM_016156.5:c.532A>C , LRG_257t1:c.532A>C NP_057240.3:p.Asn178His
NM_201278.2:c.316A>C NP_958435.1:p.Asn106His
NM_201281.2:c.316A>C NP_958438.1:p.Asn106His
XM_005274374.1:c.316A>C XP_005274431.1:p.Asn106His
XM_005274375.1:c.316A>C XP_005274432.1:p.Asn106His
XM_006718934.1:c.316A>C XP_006718997.1:p.Asn106His
XM_006718935.1:c.316A>C XP_006718998.1:p.Asn106His
XM_006718936.2:c.316A>C XP_006718999.1:p.Asn106His
XM_011543058.1:c.391A>C XP_011541360.1:p.Asn131His
XM_011543059.1:c.391A>C XP_011541361.1:p.Asn131His
XM_005274374.3:c.316A>C XP_005274431.1:p.Asn106His
XM_005274375.3:c.316A>C XP_005274432.1:p.Asn106His
NM_001243571.2:c.316A>C NP_001230500.1:p.Asn106His
NM_016156.6:c.532A>C MANE Select NP_057240.3:p.Asn178His
NM_201278.3:c.316A>C NP_958435.1:p.Asn106His
NM_201281.3:c.316A>C NP_958438.1:p.Asn106His