Canonical Allele Identifier: CA10631748

Gene: MTMR2

Linked Data

• ClinVar Variation Id: 306509
• ClinVar RCV Id: RCV000315228
• dbSNP Id: rs562826516
• gnomAD v3: 11-95833468-A-C
• gnomAD v4: 11-95833468-A-C
• MyVariant Identifiers: chr11:g.95566632A>C (hg19) ; chr11:g.95833468A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.95833468A>C , CM000673.2:g.95833468A>C	GRCh38
NC_000011.9:g.95566632A>C , CM000673.1:g.95566632A>C	GRCh37
NC_000011.8:g.95206280A>C	NCBI36
NG_008333.1:g.95740T>G , LRG_257:g.95740T>G
NG_029829.1:g.48008A>C , LRG_526:g.48008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346299.10:c.*1822T>G MANE Select	ENSP00000345752.6:n.*1822T>G
ENST00000393223.8:c.*1822T>G	ENSP00000376915.3:n.*1822T>G
ENST00000674528.1:c.*1822T>G	ENSP00000501567.1:n.*1822T>G
ENST00000674610.1:c.*1822T>G	ENSP00000501688.1:n.*1822T>G
ENST00000674901.1:n.4892T>G
ENST00000674924.1:c.*1822T>G	ENSP00000502433.1:n.*1822T>G
ENST00000674950.1:c.*3943T>G	ENSP00000502425.1:n.*3943T>G
ENST00000674968.1:c.*1822T>G	ENSP00000502567.1:n.*1822T>G
ENST00000674974.1:c.*3689T>G	ENSP00000502337.1:n.*3689T>G
ENST00000674989.1:c.*1822T>G	ENSP00000502829.1:n.*1822T>G
ENST00000675022.1:c.*1822T>G	ENSP00000502722.1:n.*1822T>G
ENST00000675024.1:n.4925T>G
ENST00000675030.1:c.*6923T>G	ENSP00000502386.1:n.*6923T>G
ENST00000675034.1:n.4913T>G
ENST00000675174.1:c.*1822T>G	ENSP00000502032.1:n.*1822T>G
ENST00000675196.1:c.*1822T>G	ENSP00000501867.1:n.*1822T>G
ENST00000675237.1:n.4917T>G
ENST00000675288.1:c.*1822T>G	ENSP00000501942.1:n.*1822T>G
ENST00000675320.1:c.*3551T>G	ENSP00000502076.1:n.*3551T>G
ENST00000675362.1:c.*1822T>G	ENSP00000501989.1:n.*1822T>G
ENST00000675413.1:n.4715T>G
ENST00000675454.1:c.*1822T>G	ENSP00000501781.1:n.*1822T>G
ENST00000675477.1:c.*1822T>G	ENSP00000501751.1:n.*1822T>G
ENST00000675495.1:n.4826T>G
ENST00000675636.1:c.*1822T>G	ENSP00000501850.1:n.*1822T>G
ENST00000675652.1:c.*1822T>G	ENSP00000502694.1:n.*1822T>G
ENST00000675660.1:c.*1822T>G	ENSP00000502824.1:n.*1822T>G
ENST00000675767.1:n.4806T>G
ENST00000675848.1:c.*1822T>G	ENSP00000502057.1:n.*1822T>G
ENST00000675896.1:c.*1814+1853T>G	ENSP00000502487.1:n.*1814+1853T>G
ENST00000675910.1:c.*3692T>G	ENSP00000502622.1:n.*3692T>G
ENST00000675922.1:c.*3645T>G	ENSP00000502168.1:n.*3645T>G
ENST00000675933.1:c.*1822T>G	ENSP00000502575.1:n.*1822T>G
ENST00000675957.1:n.4816T>G
ENST00000675981.1:c.*1822T>G	ENSP00000502204.1:n.*1822T>G
ENST00000676027.1:c.*1822T>G	ENSP00000502405.1:n.*1822T>G
ENST00000676146.1:c.*3365T>G	ENSP00000502583.1:n.*3365T>G
ENST00000676166.1:c.*1822T>G	ENSP00000501632.1:n.*1822T>G
ENST00000676177.1:c.*3667T>G	ENSP00000501635.1:n.*3667T>G
ENST00000676268.1:c.*3072T>G	ENSP00000502444.1:n.*3072T>G
ENST00000676272.1:c.*1822T>G	ENSP00000501601.1:n.*1822T>G
ENST00000676378.1:c.*1822T>G	ENSP00000502736.1:n.*1822T>G
ENST00000676388.1:c.*3494T>G	ENSP00000501866.1:n.*3494T>G
ENST00000676393.1:n.4790T>G
ENST00000676432.1:n.4956T>G
ENST00000676440.1:c.*1822T>G	ENSP00000501926.1:n.*1822T>G
ENST00000346299.9:c.*1822T>G	ENSP00000345752.5:n.*1822T>G
ENST00000393223.7:c.*1822T>G	ENSP00000376915.3:n.*1822T>G
NM_001243571.1:c.*1822T>G	NP_001230500.1:n.*1822T>G
NM_016156.5:c.*1822T>G , LRG_257t1:c.*1822T>G	NP_057240.3:n.*1822T>G
NM_201278.2:c.*1822T>G	NP_958435.1:n.*1822T>G
NM_201281.2:c.*1822T>G	NP_958438.1:n.*1822T>G
XM_005274374.1:c.*1822T>G	XP_005274431.1:n.*1822T>G
XM_005274375.1:c.*1822T>G	XP_005274432.1:n.*1822T>G
XM_006718934.1:c.*1822T>G	XP_006718997.1:n.*1822T>G
XM_006718935.1:c.*1822T>G	XP_006718998.1:n.*1822T>G
XM_006718936.2:c.*1822T>G	XP_006718999.1:n.*1822T>G
XM_011543058.1:c.*1822T>G	XP_011541360.1:n.*1822T>G
XM_011543059.1:c.*1822T>G	XP_011541361.1:n.*1822T>G
XM_005274374.3:c.*1822T>G	XP_005274431.1:n.*1822T>G
XM_005274375.3:c.*1822T>G	XP_005274432.1:n.*1822T>G
NM_001243571.2:c.*1822T>G	NP_001230500.1:n.*1822T>G
NM_016156.6:c.*1822T>G MANE Select	NP_057240.3:n.*1822T>G
NM_201278.3:c.*1822T>G	NP_958435.1:n.*1822T>G
NM_201281.3:c.*1822T>G	NP_958438.1:n.*1822T>G