Canonical Allele Identifier: CA382425390

Gene: MTMR2

Linked Data

• MyVariant Identifiers: chr11:g.95582908T>A (hg19) ; chr11:g.95849744T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95849744T>A , CM000673.2:g.95849744T>A	GRCh38
NC_000011.9:g.95582908T>A , CM000673.1:g.95582908T>A	GRCh37
NC_000011.8:g.95222556T>A	NCBI36
NG_008333.1:g.79464A>T , LRG_257:g.79464A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346299.10:c.923A>T MANE Select	ENSP00000345752.6:p.Asp308Val
ENST00000393223.8:c.707A>T	ENSP00000376915.3:p.Asp236Val
ENST00000444541.7:c.707A>T	ENSP00000396020.2:p.Asp236Val
ENST00000470293.6:c.707A>T	ENSP00000502515.1:p.Asp236Val
ENST00000481642.6:c.707A>T	ENSP00000502505.1:p.Asp236Val
ENST00000484818.6:c.707A>T	ENSP00000501963.1:p.Asp236Val
ENST00000495134.6:c.707A>T	ENSP00000501894.1:p.Asp236Val
ENST00000497683.6:c.707A>T	ENSP00000501753.1:p.Asp236Val
ENST00000674528.1:c.707A>T	ENSP00000501567.1:p.Asp236Val
ENST00000674610.1:c.707A>T	ENSP00000501688.1:p.Asp236Val
ENST00000674901.1:n.2061A>T
ENST00000674924.1:c.707A>T	ENSP00000502433.1:p.Asp236Val
ENST00000674950.1:c.*1112A>T	ENSP00000502425.1:n.*1112A>T
ENST00000674968.1:c.707A>T	ENSP00000502567.1:p.Asp236Val
ENST00000674974.1:c.*858A>T	ENSP00000502337.1:n.*858A>T
ENST00000674989.1:c.707A>T	ENSP00000502829.1:p.Asp236Val
ENST00000675022.1:c.737A>T	ENSP00000502722.1:p.Asp246Val
ENST00000675024.1:n.2094A>T
ENST00000675030.1:c.*4092A>T	ENSP00000502386.1:n.*4092A>T
ENST00000675034.1:n.2082A>T
ENST00000675174.1:c.707A>T	ENSP00000502032.1:p.Asp236Val
ENST00000675196.1:c.707A>T	ENSP00000501867.1:p.Asp236Val
ENST00000675237.1:n.2086A>T
ENST00000675288.1:c.575A>T	ENSP00000501942.1:p.Asp192Val
ENST00000675320.1:c.*720A>T	ENSP00000502076.1:n.*720A>T
ENST00000675362.1:c.707A>T	ENSP00000501989.1:p.Asp236Val
ENST00000675413.1:n.1884A>T
ENST00000675438.1:c.707A>T	ENSP00000502388.1:p.Asp236Val
ENST00000675454.1:c.707A>T	ENSP00000501781.1:p.Asp236Val
ENST00000675477.1:c.707A>T	ENSP00000501751.1:p.Asp236Val
ENST00000675489.1:c.707A>T	ENSP00000501702.1:p.Asp236Val
ENST00000675495.1:n.1995A>T
ENST00000675636.1:c.707A>T	ENSP00000501850.1:p.Asp236Val
ENST00000675652.1:c.707A>T	ENSP00000502694.1:p.Asp236Val
ENST00000675660.1:c.575A>T	ENSP00000502824.1:p.Asp192Val
ENST00000675767.1:n.1975A>T
ENST00000675807.1:c.575A>T	ENSP00000501640.1:p.Asp192Val
ENST00000675848.1:c.575A>T	ENSP00000502057.1:p.Asp192Val
ENST00000675896.1:c.*836A>T	ENSP00000502487.1:n.*836A>T
ENST00000675910.1:c.*861A>T	ENSP00000502622.1:n.*861A>T
ENST00000675922.1:c.*814A>T	ENSP00000502168.1:n.*814A>T
ENST00000675933.1:c.707A>T	ENSP00000502575.1:p.Asp236Val
ENST00000675957.1:n.1985A>T
ENST00000675981.1:c.707A>T	ENSP00000502204.1:p.Asp236Val
ENST00000676027.1:c.575A>T	ENSP00000502405.1:p.Asp192Val
ENST00000676146.1:c.*534A>T	ENSP00000502583.1:n.*534A>T
ENST00000676166.1:c.707A>T	ENSP00000501632.1:p.Asp236Val
ENST00000676177.1:c.*836A>T	ENSP00000501635.1:n.*836A>T
ENST00000676261.1:c.707A>T	ENSP00000501675.1:p.Asp236Val
ENST00000676268.1:c.*241A>T	ENSP00000502444.1:n.*241A>T
ENST00000676272.1:c.707A>T	ENSP00000501601.1:p.Asp236Val
ENST00000676378.1:c.707A>T	ENSP00000502736.1:p.Asp236Val
ENST00000676388.1:c.*663A>T	ENSP00000501866.1:n.*663A>T
ENST00000676393.1:n.1959A>T
ENST00000676432.1:n.2125A>T
ENST00000676440.1:c.707A>T	ENSP00000501926.1:p.Asp236Val
ENST00000346299.9:c.923A>T	ENSP00000345752.5:p.Asp308Val
ENST00000352297.11:c.707A>T	ENSP00000343737.7:p.Asp236Val
ENST00000393223.7:c.707A>T	ENSP00000376915.3:p.Asp236Val
ENST00000409459.5:c.707A>T	ENSP00000386882.1:p.Asp236Val
ENST00000444541.6:c.707A>T	ENSP00000396020.1:p.Asp236Val
NM_001243571.1:c.707A>T	NP_001230500.1:p.Asp236Val
NM_016156.5:c.923A>T , LRG_257t1:c.923A>T	NP_057240.3:p.Asp308Val
NM_201278.2:c.707A>T	NP_958435.1:p.Asp236Val
NM_201281.2:c.707A>T	NP_958438.1:p.Asp236Val
XM_005274374.1:c.707A>T	XP_005274431.1:p.Asp236Val
XM_005274375.1:c.707A>T	XP_005274432.1:p.Asp236Val
XM_006718934.1:c.707A>T	XP_006718997.1:p.Asp236Val
XM_006718935.1:c.707A>T	XP_006718998.1:p.Asp236Val
XM_006718936.2:c.707A>T	XP_006718999.1:p.Asp236Val
XM_011543058.1:c.782A>T	XP_011541360.1:p.Asp261Val
XM_011543059.1:c.782A>T	XP_011541361.1:p.Asp261Val
XM_005274374.3:c.707A>T	XP_005274431.1:p.Asp236Val
XM_005274375.3:c.707A>T	XP_005274432.1:p.Asp236Val
NM_001243571.2:c.707A>T	NP_001230500.1:p.Asp236Val
NM_016156.6:c.923A>T MANE Select	NP_057240.3:p.Asp308Val
NM_201278.3:c.707A>T	NP_958435.1:p.Asp236Val
NM_201281.3:c.707A>T	NP_958438.1:p.Asp236Val