Canonical Allele Identifier: CA476305417

Gene: MTMR2

Linked Data

• ClinVar Variation Id: 2011157
• ClinVar RCV Id: RCV002829294
• dbSNP Id: rs993288884
• gnomAD v2: 11-95591719-A-G
• gnomAD v4: 11-95858555-A-G
• MyVariant Identifiers: chr11:g.95591719A>G (hg19) ; chr11:g.95858555A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95858555A>G , CM000673.2:g.95858555A>G	GRCh38
NC_000011.9:g.95591719A>G , CM000673.1:g.95591719A>G	GRCh37
NC_000011.8:g.95231367A>G	NCBI36
NG_008333.1:g.70653T>C , LRG_257:g.70653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346299.10:c.546T>C MANE Select	ENSP00000345752.6:p.Tyr182=
ENST00000393223.8:c.330T>C	ENSP00000376915.3:p.Tyr110=
ENST00000444541.7:c.330T>C	ENSP00000396020.2:p.Tyr110=
ENST00000470293.6:c.330T>C	ENSP00000502515.1:p.Tyr110=
ENST00000481642.6:c.330T>C	ENSP00000502505.1:p.Tyr110=
ENST00000484818.6:c.330T>C	ENSP00000501963.1:p.Tyr110=
ENST00000495134.6:c.330T>C	ENSP00000501894.1:p.Tyr110=
ENST00000497683.6:c.330T>C	ENSP00000501753.1:p.Tyr110=
ENST00000674528.1:c.330T>C	ENSP00000501567.1:p.Tyr110=
ENST00000674610.1:c.330T>C	ENSP00000501688.1:p.Tyr110=
ENST00000674901.1:n.789T>C
ENST00000674924.1:c.330T>C	ENSP00000502433.1:p.Tyr110=
ENST00000674950.1:c.*343T>C	ENSP00000502425.1:n.*343T>C
ENST00000674968.1:c.330T>C	ENSP00000502567.1:p.Tyr110=
ENST00000674974.1:c.*481T>C	ENSP00000502337.1:n.*481T>C
ENST00000674989.1:c.330T>C	ENSP00000502829.1:p.Tyr110=
ENST00000675022.1:c.468+3437T>C	ENSP00000502722.1:n.468+3437T>C
ENST00000675024.1:n.822T>C
ENST00000675030.1:c.*3715T>C	ENSP00000502386.1:n.*3715T>C
ENST00000675034.1:n.810T>C
ENST00000675174.1:c.330T>C	ENSP00000502032.1:p.Tyr110=
ENST00000675196.1:c.330T>C	ENSP00000501867.1:p.Tyr110=
ENST00000675237.1:n.814T>C
ENST00000675288.1:c.198T>C	ENSP00000501942.1:p.Tyr66=
ENST00000675320.1:c.*343T>C	ENSP00000502076.1:n.*343T>C
ENST00000675362.1:c.330T>C	ENSP00000501989.1:p.Tyr110=
ENST00000675413.1:n.612T>C
ENST00000675438.1:c.330T>C	ENSP00000502388.1:p.Tyr110=
ENST00000675454.1:c.330T>C	ENSP00000501781.1:p.Tyr110=
ENST00000675477.1:c.330T>C	ENSP00000501751.1:p.Tyr110=
ENST00000675489.1:c.330T>C	ENSP00000501702.1:p.Tyr110=
ENST00000675495.1:n.723T>C
ENST00000675636.1:c.330T>C	ENSP00000501850.1:p.Tyr110=
ENST00000675652.1:c.330T>C	ENSP00000502694.1:p.Tyr110=
ENST00000675660.1:c.198T>C	ENSP00000502824.1:p.Tyr66=
ENST00000675767.1:n.703T>C
ENST00000675807.1:c.198T>C	ENSP00000501640.1:p.Tyr66=
ENST00000675848.1:c.198T>C	ENSP00000502057.1:p.Tyr66=
ENST00000675896.1:c.*459T>C	ENSP00000502487.1:n.*459T>C
ENST00000675910.1:c.*484T>C	ENSP00000502622.1:n.*484T>C
ENST00000675922.1:c.*437T>C	ENSP00000502168.1:n.*437T>C
ENST00000675933.1:c.330T>C	ENSP00000502575.1:p.Tyr110=
ENST00000675957.1:n.713T>C
ENST00000675981.1:c.330T>C	ENSP00000502204.1:p.Tyr110=
ENST00000676027.1:c.198T>C	ENSP00000502405.1:p.Tyr66=
ENST00000676146.1:c.*265+3437T>C	ENSP00000502583.1:n.*265+3437T>C
ENST00000676166.1:c.330T>C	ENSP00000501632.1:p.Tyr110=
ENST00000676177.1:c.*459T>C	ENSP00000501635.1:n.*459T>C
ENST00000676261.1:c.330T>C	ENSP00000501675.1:p.Tyr110=
ENST00000676268.1:c.546T>C	ENSP00000502444.1:p.Tyr182=
ENST00000676272.1:c.330T>C	ENSP00000501601.1:p.Tyr110=
ENST00000676378.1:c.330T>C	ENSP00000502736.1:p.Tyr110=
ENST00000676388.1:c.*286T>C	ENSP00000501866.1:n.*286T>C
ENST00000676393.1:n.687T>C
ENST00000676432.1:n.853T>C
ENST00000676440.1:c.330T>C	ENSP00000501926.1:p.Tyr110=
ENST00000346299.9:c.546T>C	ENSP00000345752.5:p.Tyr182=
ENST00000352297.11:c.330T>C	ENSP00000343737.7:p.Tyr110=
ENST00000393223.7:c.330T>C	ENSP00000376915.3:p.Tyr110=
ENST00000409459.5:c.330T>C	ENSP00000386882.1:p.Tyr110=
ENST00000444541.6:c.330T>C	ENSP00000396020.1:p.Tyr110=
ENST00000484818.5:n.593T>C
NM_001243571.1:c.330T>C	NP_001230500.1:p.Tyr110=
NM_016156.5:c.546T>C , LRG_257t1:c.546T>C	NP_057240.3:p.Tyr182=
NM_201278.2:c.330T>C	NP_958435.1:p.Tyr110=
NM_201281.2:c.330T>C	NP_958438.1:p.Tyr110=
XM_005274374.1:c.330T>C	XP_005274431.1:p.Tyr110=
XM_005274375.1:c.330T>C	XP_005274432.1:p.Tyr110=
XM_006718934.1:c.330T>C	XP_006718997.1:p.Tyr110=
XM_006718935.1:c.330T>C	XP_006718998.1:p.Tyr110=
XM_006718936.2:c.330T>C	XP_006718999.1:p.Tyr110=
XM_011543058.1:c.405T>C	XP_011541360.1:p.Tyr135=
XM_011543059.1:c.405T>C	XP_011541361.1:p.Tyr135=
XM_005274374.3:c.330T>C	XP_005274431.1:p.Tyr110=
XM_005274375.3:c.330T>C	XP_005274432.1:p.Tyr110=
NM_001243571.2:c.330T>C	NP_001230500.1:p.Tyr110=
NM_016156.6:c.546T>C MANE Select	NP_057240.3:p.Tyr182=
NM_201278.3:c.330T>C	NP_958435.1:p.Tyr110=
NM_201281.3:c.330T>C	NP_958438.1:p.Tyr110=