Canonical Allele Identifier: CA941113848

Gene: MTMR2

Linked Data

• dbSNP Id: rs1864279744
• gnomAD v3: 11-95858211-TGG-T
• gnomAD v4: 11-95858211-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95858212_95858213del , CM000673.2:g.95858212_95858213del	GRCh38
NC_000011.9:g.95591376_95591377del , CM000673.1:g.95591376_95591377del	GRCh37
NC_000011.8:g.95231024_95231025del	NCBI36
NG_008333.1:g.70995_70996del , LRG_257:g.70995_70996del

Transcript Alleles

HGVS	Amino-acid change
ENST00000346299.10:c.570+318_570+319del MANE Select	ENSP00000345752.6:n.570+318_570+319del
ENST00000393223.8:c.354+318_354+319del	ENSP00000376915.3:n.354+318_354+319del
ENST00000444541.7:c.354+318_354+319del	ENSP00000396020.2:n.354+318_354+319del
ENST00000470293.6:c.354+318_354+319del	ENSP00000502515.1:n.354+318_354+319del
ENST00000481642.6:c.354+318_354+319del	ENSP00000502505.1:n.354+318_354+319del
ENST00000484818.6:c.354+318_354+319del	ENSP00000501963.1:n.354+318_354+319del
ENST00000495134.6:c.354+318_354+319del	ENSP00000501894.1:n.354+318_354+319del
ENST00000497683.6:c.354+318_354+319del	ENSP00000501753.1:n.354+318_354+319del
ENST00000674528.1:c.354+318_354+319del	ENSP00000501567.1:n.354+318_354+319del
ENST00000674610.1:c.354+318_354+319del	ENSP00000501688.1:n.354+318_354+319del
ENST00000674901.1:n.1131_1132del
ENST00000674924.1:c.354+318_354+319del	ENSP00000502433.1:n.354+318_354+319del
ENST00000674950.1:c.*367+318_*367+319del	ENSP00000502425.1:n.*367+318_*367+319del
ENST00000674968.1:c.354+318_354+319del	ENSP00000502567.1:n.354+318_354+319del
ENST00000674974.1:c.*505+318_*505+319del	ENSP00000502337.1:n.*505+318_*505+319del
ENST00000674989.1:c.354+318_354+319del	ENSP00000502829.1:n.354+318_354+319del
ENST00000675022.1:c.468+3779_468+3780del	ENSP00000502722.1:n.468+3779_468+3780del
ENST00000675024.1:n.1164_1165del
ENST00000675030.1:c.*3739+318_*3739+319del	ENSP00000502386.1:n.*3739+318_*3739+319de...
ENST00000675034.1:n.1152_1153del
ENST00000675174.1:c.354+318_354+319del	ENSP00000502032.1:n.354+318_354+319del
ENST00000675196.1:c.354+318_354+319del	ENSP00000501867.1:n.354+318_354+319del
ENST00000675237.1:n.1156_1157del
ENST00000675288.1:c.222+318_222+319del	ENSP00000501942.1:n.222+318_222+319del
ENST00000675320.1:c.*367+318_*367+319del	ENSP00000502076.1:n.*367+318_*367+319del
ENST00000675362.1:c.354+318_354+319del	ENSP00000501989.1:n.354+318_354+319del
ENST00000675413.1:n.954_955del
ENST00000675438.1:c.354+318_354+319del	ENSP00000502388.1:n.354+318_354+319del
ENST00000675454.1:c.354+318_354+319del	ENSP00000501781.1:n.354+318_354+319del
ENST00000675477.1:c.354+318_354+319del	ENSP00000501751.1:n.354+318_354+319del
ENST00000675489.1:c.354+318_354+319del	ENSP00000501702.1:n.354+318_354+319del
ENST00000675495.1:n.1065_1066del
ENST00000675636.1:c.354+318_354+319del	ENSP00000501850.1:n.354+318_354+319del
ENST00000675652.1:c.354+318_354+319del	ENSP00000502694.1:n.354+318_354+319del
ENST00000675660.1:c.222+318_222+319del	ENSP00000502824.1:n.222+318_222+319del
ENST00000675767.1:n.1045_1046del
ENST00000675807.1:c.222+318_222+319del	ENSP00000501640.1:n.222+318_222+319del
ENST00000675848.1:c.222+318_222+319del	ENSP00000502057.1:n.222+318_222+319del
ENST00000675896.1:c.*483+318_*483+319del	ENSP00000502487.1:n.*483+318_*483+319del
ENST00000675910.1:c.*508+318_*508+319del	ENSP00000502622.1:n.*508+318_*508+319del
ENST00000675922.1:c.*461+318_*461+319del	ENSP00000502168.1:n.*461+318_*461+319del
ENST00000675933.1:c.354+318_354+319del	ENSP00000502575.1:n.354+318_354+319del
ENST00000675957.1:n.1055_1056del
ENST00000675981.1:c.354+318_354+319del	ENSP00000502204.1:n.354+318_354+319del
ENST00000676027.1:c.222+318_222+319del	ENSP00000502405.1:n.222+318_222+319del
ENST00000676146.1:c.*265+3779_*265+3780del	ENSP00000502583.1:n.*265+3779_*265+3780de...
ENST00000676166.1:c.354+318_354+319del	ENSP00000501632.1:n.354+318_354+319del
ENST00000676177.1:c.*483+318_*483+319del	ENSP00000501635.1:n.*483+318_*483+319del
ENST00000676261.1:c.354+318_354+319del	ENSP00000501675.1:n.354+318_354+319del
ENST00000676268.1:c.570+318_570+319del	ENSP00000502444.1:n.570+318_570+319del
ENST00000676272.1:c.354+318_354+319del	ENSP00000501601.1:n.354+318_354+319del
ENST00000676378.1:c.354+318_354+319del	ENSP00000502736.1:n.354+318_354+319del
ENST00000676388.1:c.*310+318_*310+319del	ENSP00000501866.1:n.*310+318_*310+319del
ENST00000676393.1:n.1029_1030del
ENST00000676432.1:n.1195_1196del
ENST00000676440.1:c.354+318_354+319del	ENSP00000501926.1:n.354+318_354+319del
ENST00000346299.9:c.570+318_570+319del	ENSP00000345752.5:n.570+318_570+319del
ENST00000352297.11:c.354+318_354+319del	ENSP00000343737.7:n.354+318_354+319del
ENST00000393223.7:c.354+318_354+319del	ENSP00000376915.3:n.354+318_354+319del
ENST00000409459.5:c.354+318_354+319del	ENSP00000386882.1:n.354+318_354+319del
ENST00000444541.6:c.354+318_354+319del	ENSP00000396020.1:n.354+318_354+319del
ENST00000484818.5:n.617+318_617+319del
NM_001243571.1:c.354+318_354+319del	NP_001230500.1:n.354+318_354+319del
NM_016156.5:c.570+318_570+319del , LRG_257t1:c.570+318_570+319del	NP_057240.3:n.570+318_570+319del
NM_201278.2:c.354+318_354+319del	NP_958435.1:n.354+318_354+319del
NM_201281.2:c.354+318_354+319del	NP_958438.1:n.354+318_354+319del
XM_005274374.1:c.354+318_354+319del	XP_005274431.1:n.354+318_354+319del
XM_005274375.1:c.354+318_354+319del	XP_005274432.1:n.354+318_354+319del
XM_006718934.1:c.354+318_354+319del	XP_006718997.1:n.354+318_354+319del
XM_006718935.1:c.354+318_354+319del	XP_006718998.1:n.354+318_354+319del
XM_006718936.2:c.354+318_354+319del	XP_006718999.1:n.354+318_354+319del
XM_011543058.1:c.429+318_429+319del	XP_011541360.1:n.429+318_429+319del
XM_011543059.1:c.429+318_429+319del	XP_011541361.1:n.429+318_429+319del
XM_005274374.3:c.354+318_354+319del	XP_005274431.1:n.354+318_354+319del
XM_005274375.3:c.354+318_354+319del	XP_005274432.1:n.354+318_354+319del
NM_001243571.2:c.354+318_354+319del	NP_001230500.1:n.354+318_354+319del
NM_016156.6:c.570+318_570+319del MANE Select	NP_057240.3:n.570+318_570+319del
NM_201278.3:c.354+318_354+319del	NP_958435.1:n.354+318_354+319del
NM_201281.3:c.354+318_354+319del	NP_958438.1:n.354+318_354+319del