Canonical Allele Identifier: CA400517871
Community Standard Title: NM_006852.6(TLK2):c.448A>T (p.Met150Leu)
Gene: TLK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.62536254A>T , CM000679.2:g.62536254A>T GRCh38
NC_000017.10:g.60613615A>T , CM000679.1:g.60613615A>T GRCh37
NC_000017.9:g.57967347A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006852.6:c.448A>T MANE Select NP_006843.2:p.Met150Leu
ENST00000346027.10:c.448A>T MANE Select ENSP00000275780.7:p.Met150Leu
NM_001284333.1:c.448A>T NP_001271262.1:p.Met150Leu
NM_001284333.2:c.448A>T NP_001271262.1:p.Met150Leu
NM_001284333.3:c.448A>T NP_001271262.1:p.Met150Leu
NM_001284363.1:c.352A>T NP_001271292.1:p.Met118Leu
NM_001330418.1:c.1A>T NP_001317347.1:p.Met1Leu
NM_001330418.2:c.1A>T NP_001317347.1:p.Met1Leu
NM_001330418.3:c.1A>T NP_001317347.1:p.Met1Leu
NM_001375269.1:c.490A>T NP_001362198.1:p.Met164Leu
NM_001375270.1:c.448A>T NP_001362199.1:p.Met150Leu
NM_001375271.1:c.448A>T NP_001362200.1:p.Met150Leu
NM_001375272.1:c.352A>T NP_001362201.1:p.Met118Leu
NM_001375273.1:c.1A>T NP_001362202.1:p.Met1Leu
NM_006852.3:c.448A>T NP_006843.2:p.Met150Leu
ENST00000326270.13:c.448A>T ENSP00000316512.9:p.Met150Leu
ENST00000343388.11:c.352A>T ENSP00000340800.7:p.Met118Leu
ENST00000346027.9:c.448A>T ENSP00000275780.7:p.Met150Leu
ENST00000580705.5:c.238A>T ENSP00000464516.1:p.Met80Leu
ENST00000581041.5:c.352A>T ENSP00000462036.1:p.Met118Leu
ENST00000582195.6:n.767A>T
ENST00000582809.5:c.1A>T ENSP00000463595.1:p.Met1Leu
ENST00000583843.5:c.1A>T ENSP00000463814.1:p.Met1Leu
ENST00000682075.1:c.267+13077A>T ENSP00000506988.1:n.267+13077A>T
ENST00000682085.1:c.448A>T ENSP00000506744.1:p.Met150Leu
ENST00000682203.1:c.1A>T ENSP00000507584.1:p.Met1Leu
ENST00000682274.1:c.308A>T ENSP00000507636.1:p.His103Leu
ENST00000682827.1:c.308A>T ENSP00000507567.1:p.His103Leu
ENST00000683104.1:c.352A>T ENSP00000508242.1:p.Met118Leu
ENST00000683536.1:c.1A>T ENSP00000508315.1:p.Met1Leu
ENST00000683737.1:n.340A>T
ENST00000684012.1:c.352A>T ENSP00000507902.1:p.Met118Leu
ENST00000684213.1:c.1A>T ENSP00000507880.1:p.Met1Leu
ENST00000684440.1:c.448A>T ENSP00000507712.1:p.Met150Leu
ENST00000684553.1:c.352A>T ENSP00000507681.1:p.Met118Leu
ENST00000684772.1:c.352A>T ENSP00000507724.1:p.Met118Leu
XM_011524215.1:c.448A>T XP_011522517.1:p.Met150Leu
XM_011524215.2:c.448A>T XP_011522517.1:p.Met150Leu
XM_011524216.1:c.448A>T XP_011522518.1:p.Met150Leu
XM_011524216.2:c.448A>T XP_011522518.1:p.Met150Leu
XM_011524217.1:c.448A>T XP_011522519.1:p.Met150Leu
XM_011524217.3:c.448A>T XP_011522519.1:p.Met150Leu
XM_011524218.1:c.448A>T XP_011522520.1:p.Met150Leu
XM_011524218.2:c.448A>T XP_011522520.1:p.Met150Leu
XM_011524219.1:c.352A>T XP_011522521.1:p.Met118Leu
XM_011524220.1:c.448A>T XP_011522522.1:p.Met150Leu
XM_011524220.2:c.448A>T XP_011522522.1:p.Met150Leu
XM_011524221.1:c.352A>T XP_011522523.1:p.Met118Leu
XM_011524221.2:c.352A>T XP_011522523.1:p.Met118Leu
XM_011524222.1:c.448A>T XP_011522524.1:p.Met150Leu
XM_011524222.3:c.448A>T XP_011522524.1:p.Met150Leu
XM_011524223.1:c.352A>T XP_011522525.1:p.Met118Leu
XM_011524223.3:c.352A>T XP_011522525.1:p.Met118Leu
XM_011524224.1:c.136A>T XP_011522526.1:p.Met46Leu
XM_011524224.3:c.136A>T XP_011522526.1:p.Met46Leu
XM_011524225.1:c.136A>T XP_011522527.1:p.Met46Leu
XM_011524225.3:c.136A>T XP_011522527.1:p.Met46Leu
XM_011524226.1:c.136A>T XP_011522528.1:p.Met46Leu
XM_011524226.2:c.136A>T XP_011522528.1:p.Met46Leu
XM_011524227.1:c.136A>T XP_011522529.1:p.Met46Leu
XM_011524227.2:c.136A>T XP_011522529.1:p.Met46Leu
XM_011524228.1:c.136A>T XP_011522530.1:p.Met46Leu
XM_011524228.3:c.136A>T XP_011522530.1:p.Met46Leu
XM_011524229.1:c.1A>T XP_011522531.1:p.Met1Leu
XM_011524229.2:c.1A>T XP_011522531.1:p.Met1Leu
XM_011524230.1:c.1A>T XP_011522532.1:p.Met1Leu
XM_011524231.1:c.448A>T XP_011522533.1:p.Met150Leu
XM_017024044.1:c.448A>T XP_016879533.1:p.Met150Leu
XM_017024045.1:c.490A>T XP_016879534.1:p.Met164Leu
XM_017024046.1:c.448A>T XP_016879535.1:p.Met150Leu
XM_017024047.1:c.448A>T XP_016879536.1:p.Met150Leu
XM_017024048.2:c.352A>T XP_016879537.1:p.Met118Leu
XM_017024049.2:c.352A>T XP_016879538.1:p.Met118Leu
XM_017024050.1:c.490A>T XP_016879539.1:p.Met164Leu
XM_017024051.2:c.352A>T XP_016879540.1:p.Met118Leu
XM_017024052.2:c.352A>T XP_016879541.1:p.Met118Leu
XM_017024053.2:c.352A>T XP_016879542.1:p.Met118Leu
XM_017024054.2:c.448A>T XP_016879543.1:p.Met150Leu
XM_017024055.2:c.352A>T XP_016879544.1:p.Met118Leu
XM_017024056.2:c.136A>T XP_016879545.1:p.Met46Leu
XM_017024057.1:c.136A>T XP_016879546.1:p.Met46Leu
XM_017024059.1:c.1A>T XP_016879548.1:p.Met1Leu
XM_017024060.1:c.1A>T XP_016879549.1:p.Met1Leu
XM_024450552.1:c.469A>T XP_024306320.1:p.Met157Leu
XM_024450553.1:c.448A>T XP_024306321.1:p.Met150Leu