Canonical Allele Identifier: CA2579070418
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148805dup , CM000669.2:g.152148805dup GRCh38
NC_000007.13:g.151845890dup , CM000669.1:g.151845890dup GRCh37
NC_000007.12:g.151476823dup NCBI36
NG_033948.1:g.292202dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1311dup
ENST00000682116.1:n.2255dup
ENST00000682283.1:c.13294dup ENSP00000507485.1:p.Cys4432LeufsTer2
ENST00000682629.1:n.2423dup
ENST00000683120.1:n.8315dup
ENST00000683178.1:c.3696dup
ENST00000683200.1:c.10633dup ENSP00000508052.1:p.Cys3545LeufsTer2
ENST00000683337.1:n.4753dup
ENST00000683502.1:c.3768dup
ENST00000683621.1:n.1889dup
ENST00000683640.1:n.1839dup
ENST00000684069.1:c.1540dup ENSP00000507650.1:p.Cys514LeufsTer2
ENST00000684261.1:c.8020dup ENSP00000508097.1:p.Cys2674LeufsTer2
ENST00000684649.1:c.3768dup
ENST00000262189.11:c.13123dup MANE Select ENSP00000262189.6:p.Cys4375LeufsTer2
ENST00000360104.8:c.8910dup
ENST00000418061.2:c.3765dup
ENST00000424877.6:c.3699dup
ENST00000679393.1:n.7834dup
ENST00000679560.1:c.8023dup ENSP00000505094.1:p.Cys2675LeufsTer2
ENST00000679882.1:c.12688dup ENSP00000506154.1:p.Cys4230LeufsTer2
ENST00000680029.1:c.3700dup
ENST00000680877.1:c.8023dup ENSP00000505724.1:p.Cys2675LeufsTer2
ENST00000681923.1:n.2138dup
ENST00000262189.10:c.13123dup ENSP00000262189.6:p.Cys4375LeufsTer2
ENST00000355193.6:c.13123dup ENSP00000347325.3:p.Cys4375LeufsTer2
ENST00000360104.7:c.5804dup
ENST00000424877.5:c.2974dup ENSP00000410411.1:p.Cys992LeufsTer2
ENST00000473186.5:n.11005dup
ENST00000558084.5:c.*10643dup ENSP00000453752.1:n.*10643dup
NM_170606.2:c.13123dup NP_733751.2:p.Cys4375LeufsTer2
XM_005250025.3:c.13339dup XP_005250082.1:p.Cys4447LeufsTer2
XM_005250026.2:c.13336dup XP_005250083.1:p.Cys4446LeufsTer2
XM_005250027.3:c.13336dup XP_005250084.1:p.Cys4446LeufsTer2
XM_005250028.3:c.13339dup XP_005250085.1:p.Cys4447LeufsTer2
XM_005250031.3:c.13174dup XP_005250088.1:p.Cys4392LeufsTer2
XM_006716077.2:c.13336dup XP_006716140.1:p.Cys4446LeufsTer2
XM_006716078.2:c.13267dup XP_006716141.1:p.Cys4423LeufsTer2
XM_006716079.2:c.13171dup XP_006716142.1:p.Cys4391LeufsTer2
XM_011516450.1:c.13291dup XP_011514752.1:p.Cys4431LeufsTer2
XM_011516451.1:c.13219dup XP_011514753.1:p.Cys4407LeufsTer2
XM_011516452.1:c.13186dup XP_011514754.1:p.Cys4396LeufsTer2
XM_011516453.1:c.13102dup XP_011514755.1:p.Cys4368LeufsTer2
XM_011516454.1:c.12424dup XP_011514756.1:p.Cys4142LeufsTer2
XM_011516455.1:c.10885dup XP_011514757.1:p.Cys3629LeufsTer2
XM_011516456.1:c.13291dup XP_011514758.1:p.Cys4431LeufsTer2
XM_005250025.4:c.13339dup XP_005250082.1:p.Cys4447LeufsTer2
XM_005250026.3:c.13336dup XP_005250083.1:p.Cys4446LeufsTer2
XM_005250027.4:c.13336dup XP_005250084.1:p.Cys4446LeufsTer2
XM_005250028.4:c.13339dup XP_005250085.1:p.Cys4447LeufsTer2
XM_005250031.4:c.13174dup XP_005250088.1:p.Cys4392LeufsTer2
XM_006716077.3:c.13336dup XP_006716140.1:p.Cys4446LeufsTer2
XM_006716078.3:c.13267dup XP_006716141.1:p.Cys4423LeufsTer2
XM_006716079.3:c.13171dup XP_006716142.1:p.Cys4391LeufsTer2
XM_011516450.2:c.13291dup XP_011514752.1:p.Cys4431LeufsTer2
XM_011516451.2:c.13219dup XP_011514753.1:p.Cys4407LeufsTer2
XM_011516452.2:c.13186dup XP_011514754.1:p.Cys4396LeufsTer2
XM_011516453.2:c.13102dup XP_011514755.1:p.Cys4368LeufsTer2
XM_011516454.2:c.12424dup XP_011514756.1:p.Cys4142LeufsTer2
XM_011516456.2:c.13291dup XP_011514758.1:p.Cys4431LeufsTer2
XM_017012480.1:c.13339dup XP_016867969.1:p.Cys4447LeufsTer2
XM_017012481.1:c.13336dup XP_016867970.1:p.Cys4446LeufsTer2
XM_017012482.1:c.13336dup XP_016867971.1:p.Cys4446LeufsTer2
XM_017012483.1:c.13336dup XP_016867972.1:p.Cys4446LeufsTer2
XM_017012484.1:c.13306dup XP_016867973.1:p.Cys4436LeufsTer2
XM_017012485.1:c.13288dup XP_016867974.1:p.Cys4430LeufsTer2
XM_017012486.1:c.13264dup XP_016867975.1:p.Cys4422LeufsTer2
XM_017012487.1:c.13192dup XP_016867976.1:p.Cys4398LeufsTer2
XM_017012488.1:c.13156dup XP_016867977.1:p.Cys4386LeufsTer2
XM_017012489.1:c.10009dup XP_016867978.1:p.Cys3337LeufsTer2
XM_017012490.2:c.9613dup XP_016867979.1:p.Cys3205LeufsTer2
XM_024446852.1:c.13336dup XP_024302620.1:p.Cys4446LeufsTer2
XM_024446853.1:c.13264dup XP_024302621.1:p.Cys4422LeufsTer2
NM_170606.3:c.13123dup MANE Select NP_733751.2:p.Cys4375LeufsTer2