Canonical Allele Identifier: CA10631757

Gene: MTMR2

Linked Data

• ClinVar Variation Id: 306521
• ClinVar RCV Id: RCV000329500
• dbSNP Id: rs16922622
• gnomAD v2: 11-95567388-A-G
• gnomAD v3: 11-95834224-A-G
• gnomAD v4: 11-95834224-A-G
• MyVariant Identifiers: chr11:g.95567388A>G (hg19) ; chr11:g.95834224A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95834224A>G , CM000673.2:g.95834224A>G	GRCh38
NC_000011.9:g.95567388A>G , CM000673.1:g.95567388A>G	GRCh37
NC_000011.8:g.95207036A>G	NCBI36
NG_008333.1:g.94984T>C , LRG_257:g.94984T>C
NG_029829.1:g.48764A>G , LRG_526:g.48764A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346299.10:c.*1066T>C MANE Select	ENSP00000345752.6:n.*1066T>C
ENST00000393223.8:c.*1066T>C	ENSP00000376915.3:n.*1066T>C
ENST00000674528.1:c.*1066T>C	ENSP00000501567.1:n.*1066T>C
ENST00000674610.1:c.*1066T>C	ENSP00000501688.1:n.*1066T>C
ENST00000674901.1:n.4136T>C
ENST00000674924.1:c.*1066T>C	ENSP00000502433.1:n.*1066T>C
ENST00000674950.1:c.*3187T>C	ENSP00000502425.1:n.*3187T>C
ENST00000674968.1:c.*1066T>C	ENSP00000502567.1:n.*1066T>C
ENST00000674974.1:c.*2933T>C	ENSP00000502337.1:n.*2933T>C
ENST00000674989.1:c.*1066T>C	ENSP00000502829.1:n.*1066T>C
ENST00000675022.1:c.*1066T>C	ENSP00000502722.1:n.*1066T>C
ENST00000675024.1:n.4169T>C
ENST00000675030.1:c.*6167T>C	ENSP00000502386.1:n.*6167T>C
ENST00000675034.1:n.4157T>C
ENST00000675174.1:c.*1066T>C	ENSP00000502032.1:n.*1066T>C
ENST00000675196.1:c.*1066T>C	ENSP00000501867.1:n.*1066T>C
ENST00000675237.1:n.4161T>C
ENST00000675288.1:c.*1066T>C	ENSP00000501942.1:n.*1066T>C
ENST00000675320.1:c.*2795T>C	ENSP00000502076.1:n.*2795T>C
ENST00000675362.1:c.*1066T>C	ENSP00000501989.1:n.*1066T>C
ENST00000675413.1:n.3959T>C
ENST00000675438.1:c.2689T>C	ENSP00000502388.1:n.2689T>C
ENST00000675454.1:c.*1066T>C	ENSP00000501781.1:n.*1066T>C
ENST00000675477.1:c.*1066T>C	ENSP00000501751.1:n.*1066T>C
ENST00000675489.1:c.*1066T>C	ENSP00000501702.1:n.*1066T>C
ENST00000675495.1:n.4070T>C
ENST00000675636.1:c.*1066T>C	ENSP00000501850.1:n.*1066T>C
ENST00000675652.1:c.*1066T>C	ENSP00000502694.1:n.*1066T>C
ENST00000675660.1:c.*1066T>C	ENSP00000502824.1:n.*1066T>C
ENST00000675767.1:n.4050T>C
ENST00000675807.1:c.*1066T>C	ENSP00000501640.1:n.*1066T>C
ENST00000675848.1:c.*1066T>C	ENSP00000502057.1:n.*1066T>C
ENST00000675896.1:c.*1814+1097T>C	ENSP00000502487.1:n.*1814+1097T>C
ENST00000675910.1:c.*2936T>C	ENSP00000502622.1:n.*2936T>C
ENST00000675922.1:c.*2889T>C	ENSP00000502168.1:n.*2889T>C
ENST00000675933.1:c.*1066T>C	ENSP00000502575.1:n.*1066T>C
ENST00000675957.1:n.4060T>C
ENST00000675981.1:c.*1066T>C	ENSP00000502204.1:n.*1066T>C
ENST00000676027.1:c.*1066T>C	ENSP00000502405.1:n.*1066T>C
ENST00000676146.1:c.*2609T>C	ENSP00000502583.1:n.*2609T>C
ENST00000676166.1:c.*1066T>C	ENSP00000501632.1:n.*1066T>C
ENST00000676177.1:c.*2911T>C	ENSP00000501635.1:n.*2911T>C
ENST00000676261.1:c.*1066T>C	ENSP00000501675.1:n.*1066T>C
ENST00000676268.1:c.*2316T>C	ENSP00000502444.1:n.*2316T>C
ENST00000676272.1:c.*1066T>C	ENSP00000501601.1:n.*1066T>C
ENST00000676378.1:c.*1066T>C	ENSP00000502736.1:n.*1066T>C
ENST00000676388.1:c.*2738T>C	ENSP00000501866.1:n.*2738T>C
ENST00000676393.1:n.4034T>C
ENST00000676432.1:n.4200T>C
ENST00000676440.1:c.*1066T>C	ENSP00000501926.1:n.*1066T>C
ENST00000346299.9:c.*1066T>C	ENSP00000345752.5:n.*1066T>C
ENST00000352297.11:c.*1066T>C	ENSP00000343737.7:n.*1066T>C
ENST00000393223.7:c.*1066T>C	ENSP00000376915.3:n.*1066T>C
ENST00000409459.5:c.*1066T>C	ENSP00000386882.1:n.*1066T>C
NM_001243571.1:c.*1066T>C	NP_001230500.1:n.*1066T>C
NM_016156.5:c.*1066T>C , LRG_257t1:c.*1066T>C	NP_057240.3:n.*1066T>C
NM_201278.2:c.*1066T>C	NP_958435.1:n.*1066T>C
NM_201281.2:c.*1066T>C	NP_958438.1:n.*1066T>C
XM_005274374.1:c.*1066T>C	XP_005274431.1:n.*1066T>C
XM_005274375.1:c.*1066T>C	XP_005274432.1:n.*1066T>C
XM_006718934.1:c.*1066T>C	XP_006718997.1:n.*1066T>C
XM_006718935.1:c.*1066T>C	XP_006718998.1:n.*1066T>C
XM_006718936.2:c.*1066T>C	XP_006718999.1:n.*1066T>C
XM_011543058.1:c.*1066T>C	XP_011541360.1:n.*1066T>C
XM_011543059.1:c.*1066T>C	XP_011541361.1:n.*1066T>C
XM_005274374.3:c.*1066T>C	XP_005274431.1:n.*1066T>C
XM_005274375.3:c.*1066T>C	XP_005274432.1:n.*1066T>C
NM_001243571.2:c.*1066T>C	NP_001230500.1:n.*1066T>C
NM_016156.6:c.*1066T>C MANE Select	NP_057240.3:n.*1066T>C
NM_201278.3:c.*1066T>C	NP_958435.1:n.*1066T>C
NM_201281.3:c.*1066T>C	NP_958438.1:n.*1066T>C