Canonical Allele Identifier: CA382428658

Gene: MTMR2

Linked Data

• gnomAD v4: 11-95858616-C-A
• MyVariant Identifiers: chr11:g.95591780C>A (hg19) ; chr11:g.95858616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95858616C>A , CM000673.2:g.95858616C>A	GRCh38
NC_000011.9:g.95591780C>A , CM000673.1:g.95591780C>A	GRCh37
NC_000011.8:g.95231428C>A	NCBI36
NG_008333.1:g.70592G>T , LRG_257:g.70592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346299.10:c.485G>T MANE Select	ENSP00000345752.6:p.Arg162Leu
ENST00000393223.8:c.269G>T	ENSP00000376915.3:p.Arg90Leu
ENST00000444541.7:c.269G>T	ENSP00000396020.2:p.Arg90Leu
ENST00000470293.6:c.269G>T	ENSP00000502515.1:p.Arg90Leu
ENST00000481642.6:c.269G>T	ENSP00000502505.1:p.Arg90Leu
ENST00000484818.6:c.269G>T	ENSP00000501963.1:p.Arg90Leu
ENST00000495134.6:c.269G>T	ENSP00000501894.1:p.Arg90Leu
ENST00000497683.6:c.269G>T	ENSP00000501753.1:p.Arg90Leu
ENST00000674528.1:c.269G>T	ENSP00000501567.1:p.Arg90Leu
ENST00000674610.1:c.269G>T	ENSP00000501688.1:p.Arg90Leu
ENST00000674901.1:n.728G>T
ENST00000674924.1:c.269G>T	ENSP00000502433.1:p.Arg90Leu
ENST00000674950.1:c.*282G>T	ENSP00000502425.1:n.*282G>T
ENST00000674968.1:c.269G>T	ENSP00000502567.1:p.Arg90Leu
ENST00000674974.1:c.*420G>T	ENSP00000502337.1:n.*420G>T
ENST00000674989.1:c.269G>T	ENSP00000502829.1:p.Arg90Leu
ENST00000675022.1:c.468+3376G>T	ENSP00000502722.1:n.468+3376G>T
ENST00000675024.1:n.761G>T
ENST00000675030.1:c.*3654G>T	ENSP00000502386.1:n.*3654G>T
ENST00000675034.1:n.749G>T
ENST00000675174.1:c.269G>T	ENSP00000502032.1:p.Arg90Leu
ENST00000675196.1:c.269G>T	ENSP00000501867.1:p.Arg90Leu
ENST00000675237.1:n.753G>T
ENST00000675288.1:c.137G>T	ENSP00000501942.1:p.Arg46Leu
ENST00000675320.1:c.*282G>T	ENSP00000502076.1:n.*282G>T
ENST00000675362.1:c.269G>T	ENSP00000501989.1:p.Arg90Leu
ENST00000675413.1:n.551G>T
ENST00000675438.1:c.269G>T	ENSP00000502388.1:p.Arg90Leu
ENST00000675454.1:c.269G>T	ENSP00000501781.1:p.Arg90Leu
ENST00000675477.1:c.269G>T	ENSP00000501751.1:p.Arg90Leu
ENST00000675489.1:c.269G>T	ENSP00000501702.1:p.Arg90Leu
ENST00000675495.1:n.662G>T
ENST00000675636.1:c.269G>T	ENSP00000501850.1:p.Arg90Leu
ENST00000675652.1:c.269G>T	ENSP00000502694.1:p.Arg90Leu
ENST00000675660.1:c.137G>T	ENSP00000502824.1:p.Arg46Leu
ENST00000675767.1:n.642G>T
ENST00000675807.1:c.137G>T	ENSP00000501640.1:p.Arg46Leu
ENST00000675848.1:c.137G>T	ENSP00000502057.1:p.Arg46Leu
ENST00000675896.1:c.*398G>T	ENSP00000502487.1:n.*398G>T
ENST00000675910.1:c.*423G>T	ENSP00000502622.1:n.*423G>T
ENST00000675922.1:c.*376G>T	ENSP00000502168.1:n.*376G>T
ENST00000675933.1:c.269G>T	ENSP00000502575.1:p.Arg90Leu
ENST00000675957.1:n.652G>T
ENST00000675981.1:c.269G>T	ENSP00000502204.1:p.Arg90Leu
ENST00000676027.1:c.137G>T	ENSP00000502405.1:p.Arg46Leu
ENST00000676146.1:c.*265+3376G>T	ENSP00000502583.1:n.*265+3376G>T
ENST00000676166.1:c.269G>T	ENSP00000501632.1:p.Arg90Leu
ENST00000676177.1:c.*398G>T	ENSP00000501635.1:n.*398G>T
ENST00000676261.1:c.269G>T	ENSP00000501675.1:p.Arg90Leu
ENST00000676268.1:c.485G>T	ENSP00000502444.1:p.Arg162Leu
ENST00000676272.1:c.269G>T	ENSP00000501601.1:p.Arg90Leu
ENST00000676378.1:c.269G>T	ENSP00000502736.1:p.Arg90Leu
ENST00000676388.1:c.*225G>T	ENSP00000501866.1:n.*225G>T
ENST00000676393.1:n.626G>T
ENST00000676432.1:n.792G>T
ENST00000676440.1:c.269G>T	ENSP00000501926.1:p.Arg90Leu
ENST00000346299.9:c.485G>T	ENSP00000345752.5:p.Arg162Leu
ENST00000352297.11:c.269G>T	ENSP00000343737.7:p.Arg90Leu
ENST00000393223.7:c.269G>T	ENSP00000376915.3:p.Arg90Leu
ENST00000409459.5:c.269G>T	ENSP00000386882.1:p.Arg90Leu
ENST00000444541.6:c.269G>T	ENSP00000396020.1:p.Arg90Leu
ENST00000484818.5:n.532G>T
NM_001243571.1:c.269G>T	NP_001230500.1:p.Arg90Leu
NM_016156.5:c.485G>T , LRG_257t1:c.485G>T	NP_057240.3:p.Arg162Leu
NM_201278.2:c.269G>T	NP_958435.1:p.Arg90Leu
NM_201281.2:c.269G>T	NP_958438.1:p.Arg90Leu
XM_005274374.1:c.269G>T	XP_005274431.1:p.Arg90Leu
XM_005274375.1:c.269G>T	XP_005274432.1:p.Arg90Leu
XM_006718934.1:c.269G>T	XP_006718997.1:p.Arg90Leu
XM_006718935.1:c.269G>T	XP_006718998.1:p.Arg90Leu
XM_006718936.2:c.269G>T	XP_006718999.1:p.Arg90Leu
XM_011543058.1:c.344G>T	XP_011541360.1:p.Arg115Leu
XM_011543059.1:c.344G>T	XP_011541361.1:p.Arg115Leu
XM_005274374.3:c.269G>T	XP_005274431.1:p.Arg90Leu
XM_005274375.3:c.269G>T	XP_005274432.1:p.Arg90Leu
NM_001243571.2:c.269G>T	NP_001230500.1:p.Arg90Leu
NM_016156.6:c.485G>T MANE Select	NP_057240.3:p.Arg162Leu
NM_201278.3:c.269G>T	NP_958435.1:p.Arg90Leu
NM_201281.3:c.269G>T	NP_958438.1:p.Arg90Leu