Canonical Allele Identifier: CA382416450
Community Standard Title: NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
Gene: MTMR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.95923918G>A , CM000673.2:g.95923918G>A GRCh38
NC_000011.9:g.95657082G>A , CM000673.1:g.95657082G>A GRCh37
NC_000011.8:g.95296730G>A NCBI36
NG_008333.1:g.5290C>T , LRG_257:g.5290C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016156.6:c.37C>T MANE Select NP_057240.3:p.Gln13Ter
ENST00000346299.10:c.37C>T MANE Select ENSP00000345752.6:p.Gln13Ter
NM_001243571.1:c.-447C>T NP_001230500.1:n.-447C>T
NM_001243571.2:c.-447C>T NP_001230500.1:n.-447C>T
NM_016156.5:c.37C>T , LRG_257t1:c.37C>T NP_057240.3:p.Gln13Ter
NM_201278.2:c.-374C>T NP_958435.1:n.-374C>T
NM_201278.3:c.-374C>T NP_958435.1:n.-374C>T
NM_201281.2:c.-251C>T NP_958438.1:n.-251C>T
NM_201281.3:c.-251C>T NP_958438.1:n.-251C>T
ENST00000346299.9:c.37C>T ENSP00000345752.5:p.Gln13Ter
ENST00000352297.11:c.-251C>T ENSP00000343737.7:n.-251C>T
ENST00000393223.7:c.-180C>T ENSP00000376915.3:n.-180C>T
ENST00000393223.8:c.-272C>T ENSP00000376915.3:n.-272C>T
ENST00000409459.5:c.-324C>T ENSP00000386882.1:n.-324C>T
ENST00000470011.5:n.273C>T
ENST00000481642.5:n.190C>T
ENST00000481642.6:c.-408C>T ENSP00000502505.1:n.-408C>T
ENST00000674950.1:c.37C>T ENSP00000502425.1:p.Gln13Ter
ENST00000674974.1:c.37C>T ENSP00000502337.1:p.Gln13Ter
ENST00000674989.1:c.-248C>T ENSP00000502829.1:n.-248C>T
ENST00000675022.1:c.37C>T ENSP00000502722.1:p.Gln13Ter
ENST00000675024.1:n.190C>T
ENST00000675030.1:c.37C>T ENSP00000502386.1:p.Gln13Ter
ENST00000675174.1:c.-301C>T ENSP00000502032.1:n.-301C>T
ENST00000675320.1:c.37C>T ENSP00000502076.1:p.Gln13Ter
ENST00000675362.1:c.-345C>T ENSP00000501989.1:n.-345C>T
ENST00000675489.1:c.-447C>T ENSP00000501702.1:n.-447C>T
ENST00000675495.1:n.214C>T
ENST00000675652.1:c.-145C>T ENSP00000502694.1:n.-145C>T
ENST00000675767.1:n.184C>T
ENST00000675848.1:c.-544C>T ENSP00000502057.1:n.-544C>T
ENST00000675896.1:c.37C>T ENSP00000502487.1:p.Gln13Ter
ENST00000675910.1:c.37C>T ENSP00000502622.1:p.Gln13Ter
ENST00000675922.1:c.37C>T ENSP00000502168.1:p.Gln13Ter
ENST00000676027.1:c.-617C>T ENSP00000502405.1:n.-617C>T
ENST00000676146.1:c.37C>T ENSP00000502583.1:p.Gln13Ter
ENST00000676177.1:c.37C>T ENSP00000501635.1:p.Gln13Ter
ENST00000676261.1:c.-374C>T ENSP00000501675.1:n.-374C>T
ENST00000676268.1:c.37C>T ENSP00000502444.1:p.Gln13Ter
ENST00000676272.1:c.-74C>T ENSP00000501601.1:n.-74C>T
ENST00000676388.1:c.37C>T ENSP00000501866.1:p.Gln13Ter
ENST00000676432.1:n.183C>T
XM_005274375.1:c.-303C>T XP_005274432.1:n.-303C>T
XM_005274375.3:c.-303C>T XP_005274432.1:n.-303C>T
XM_006718934.1:c.-324C>T XP_006718997.1:n.-324C>T
XM_006718936.2:c.-253C>T XP_006718999.1:n.-253C>T
XM_011543058.1:c.-333C>T XP_011541360.1:n.-333C>T