Canonical Allele Identifier: CA10639754

Gene: MTMR2

Linked Data

• ClinVar Variation Id: 306545
• ClinVar RCV Id: RCV000285112
• dbSNP Id: rs886048772
• MyVariant Identifiers: chr11:g.95598815G>A (hg19) ; chr11:g.95865651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95865651G>A , CM000673.2:g.95865651G>A	GRCh38
NC_000011.9:g.95598815G>A , CM000673.1:g.95598815G>A	GRCh37
NC_000011.8:g.95238463G>A	NCBI36
NG_008333.1:g.63557C>T , LRG_257:g.63557C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346299.10:c.212C>T MANE Select	ENSP00000345752.6:p.Ala71Val
ENST00000393223.8:c.-5C>T	ENSP00000376915.3:n.-5C>T
ENST00000444541.7:c.-5C>T	ENSP00000396020.2:n.-5C>T
ENST00000470293.6:c.-5C>T	ENSP00000502515.1:n.-5C>T
ENST00000481642.6:c.-5C>T	ENSP00000502505.1:n.-5C>T
ENST00000484818.6:c.-5C>T	ENSP00000501963.1:n.-5C>T
ENST00000495134.6:c.-5C>T	ENSP00000501894.1:n.-5C>T
ENST00000497683.6:c.-5C>T	ENSP00000501753.1:n.-5C>T
ENST00000674528.1:c.-5C>T	ENSP00000501567.1:n.-5C>T
ENST00000674610.1:c.-5C>T	ENSP00000501688.1:n.-5C>T
ENST00000674901.1:n.294C>T
ENST00000674924.1:c.-5C>T	ENSP00000502433.1:n.-5C>T
ENST00000674950.1:c.*9C>T	ENSP00000502425.1:n.*9C>T
ENST00000674968.1:c.-5C>T	ENSP00000502567.1:n.-5C>T
ENST00000674974.1:c.*147C>T	ENSP00000502337.1:n.*147C>T
ENST00000674989.1:c.-5C>T	ENSP00000502829.1:n.-5C>T
ENST00000675022.1:c.212C>T	ENSP00000502722.1:p.Ala71Val
ENST00000675024.1:n.488C>T
ENST00000675030.1:c.*147C>T	ENSP00000502386.1:n.*147C>T
ENST00000675034.1:n.476C>T
ENST00000675174.1:c.-5C>T	ENSP00000502032.1:n.-5C>T
ENST00000675196.1:c.-5C>T	ENSP00000501867.1:n.-5C>T
ENST00000675237.1:n.480C>T
ENST00000675288.1:c.-298C>T	ENSP00000501942.1:n.-298C>T
ENST00000675320.1:c.*9C>T	ENSP00000502076.1:n.*9C>T
ENST00000675362.1:c.-5C>T	ENSP00000501989.1:n.-5C>T
ENST00000675413.1:n.278C>T
ENST00000675454.1:c.-5C>T	ENSP00000501781.1:n.-5C>T
ENST00000675477.1:c.-5C>T	ENSP00000501751.1:n.-5C>T
ENST00000675489.1:c.-5C>T	ENSP00000501702.1:n.-5C>T
ENST00000675495.1:n.389C>T
ENST00000675636.1:c.-5C>T	ENSP00000501850.1:n.-5C>T
ENST00000675652.1:c.-5C>T	ENSP00000502694.1:n.-5C>T
ENST00000675660.1:c.-298C>T	ENSP00000502824.1:n.-298C>T
ENST00000675767.1:n.359C>T
ENST00000675807.1:c.-298C>T	ENSP00000501640.1:n.-298C>T
ENST00000675848.1:c.-298C>T	ENSP00000502057.1:n.-298C>T
ENST00000675896.1:c.*125C>T	ENSP00000502487.1:n.*125C>T
ENST00000675910.1:c.*150C>T	ENSP00000502622.1:n.*150C>T
ENST00000675922.1:c.212C>T	ENSP00000502168.1:p.Ala71Val
ENST00000675933.1:c.-5C>T	ENSP00000502575.1:n.-5C>T
ENST00000675957.1:n.379C>T
ENST00000675981.1:c.-5C>T	ENSP00000502204.1:n.-5C>T
ENST00000676027.1:c.-298C>T	ENSP00000502405.1:n.-298C>T
ENST00000676146.1:c.*9C>T	ENSP00000502583.1:n.*9C>T
ENST00000676166.1:c.-5C>T	ENSP00000501632.1:n.-5C>T
ENST00000676177.1:c.*125C>T	ENSP00000501635.1:n.*125C>T
ENST00000676261.1:c.-5C>T	ENSP00000501675.1:n.-5C>T
ENST00000676268.1:c.212C>T	ENSP00000502444.1:p.Ala71Val
ENST00000676272.1:c.-5C>T	ENSP00000501601.1:n.-5C>T
ENST00000676378.1:c.-5C>T	ENSP00000502736.1:n.-5C>T
ENST00000676388.1:c.212C>T	ENSP00000501866.1:p.Ala71Val
ENST00000676393.1:n.353C>T
ENST00000676432.1:n.358C>T
ENST00000676440.1:c.-5C>T	ENSP00000501926.1:n.-5C>T
ENST00000346299.9:c.212C>T	ENSP00000345752.5:p.Ala71Val
ENST00000352297.11:c.-5C>T	ENSP00000343737.7:n.-5C>T
ENST00000393223.7:c.-5C>T	ENSP00000376915.3:n.-5C>T
ENST00000409459.5:c.-5C>T	ENSP00000386882.1:n.-5C>T
ENST00000444541.6:c.-5C>T	ENSP00000396020.1:n.-5C>T
ENST00000470293.5:n.515C>T
ENST00000472423.5:n.205C>T
ENST00000484818.5:n.259C>T
ENST00000485740.5:n.377C>T
ENST00000495134.5:n.528C>T
ENST00000497683.5:n.432C>T
NM_001243571.1:c.-5C>T	NP_001230500.1:n.-5C>T
NM_016156.5:c.212C>T , LRG_257t1:c.212C>T	NP_057240.3:p.Ala71Val
NM_201278.2:c.-5C>T	NP_958435.1:n.-5C>T
NM_201281.2:c.-5C>T	NP_958438.1:n.-5C>T
XM_005274374.1:c.-5C>T	XP_005274431.1:n.-5C>T
XM_005274375.1:c.-5C>T	XP_005274432.1:n.-5C>T
XM_006718934.1:c.-5C>T	XP_006718997.1:n.-5C>T
XM_006718935.1:c.-5C>T	XP_006718998.1:n.-5C>T
XM_006718936.2:c.-5C>T	XP_006718999.1:n.-5C>T
XM_011543058.1:c.71C>T	XP_011541360.1:p.Ala24Val
XM_011543059.1:c.71C>T	XP_011541361.1:p.Ala24Val
XM_005274374.3:c.-5C>T	XP_005274431.1:n.-5C>T
XM_005274375.3:c.-5C>T	XP_005274432.1:n.-5C>T
NM_001243571.2:c.-5C>T	NP_001230500.1:n.-5C>T
NM_016156.6:c.212C>T MANE Select	NP_057240.3:p.Ala71Val
NM_201278.3:c.-5C>T	NP_958435.1:n.-5C>T
NM_201281.3:c.-5C>T	NP_958438.1:n.-5C>T