Canonical Allele Identifier: CA370091867
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148687C>A , CM000669.2:g.152148687C>A GRCh38
NC_000007.13:g.151845772C>A , CM000669.1:g.151845772C>A GRCh37
NC_000007.12:g.151476705C>A NCBI36
NG_033948.1:g.292319G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1428G>T
ENST00000682116.1:n.2372G>T
ENST00000682283.1:c.13411G>T ENSP00000507485.1:p.Asp4471Tyr
ENST00000682629.1:n.2540G>T
ENST00000683120.1:n.8432G>T
ENST00000683178.1:c.3813G>T
ENST00000683200.1:c.10750G>T ENSP00000508052.1:p.Asp3584Tyr
ENST00000683337.1:n.4870G>T
ENST00000683502.1:c.3885G>T
ENST00000683621.1:n.2006G>T
ENST00000683640.1:n.1956G>T
ENST00000684069.1:c.1657G>T ENSP00000507650.1:p.Asp553Tyr
ENST00000684261.1:c.8137G>T ENSP00000508097.1:p.Asp2713Tyr
ENST00000684649.1:c.3885G>T
ENST00000262189.11:c.13240G>T MANE Select ENSP00000262189.6:p.Asp4414Tyr
ENST00000360104.8:c.9027G>T
ENST00000418061.2:c.3882G>T
ENST00000424877.6:c.3816G>T
ENST00000679393.1:n.7951G>T
ENST00000679560.1:c.8140G>T ENSP00000505094.1:p.Asp2714Tyr
ENST00000679882.1:c.12805G>T ENSP00000506154.1:p.Asp4269Tyr
ENST00000680029.1:c.3817G>T
ENST00000680877.1:c.8140G>T ENSP00000505724.1:p.Asp2714Tyr
ENST00000681923.1:n.2255G>T
ENST00000262189.10:c.13240G>T ENSP00000262189.6:p.Asp4414Tyr
ENST00000355193.6:c.13240G>T ENSP00000347325.3:p.Asp4414Tyr
ENST00000360104.7:c.5921G>T
ENST00000424877.5:c.3091G>T ENSP00000410411.1:p.Asp1031Tyr
ENST00000473186.5:n.11122G>T
ENST00000558084.5:c.*10760G>T ENSP00000453752.1:n.*10760G>T
NM_170606.2:c.13240G>T NP_733751.2:p.Asp4414Tyr
XM_005250025.3:c.13456G>T XP_005250082.1:p.Asp4486Tyr
XM_005250026.2:c.13453G>T XP_005250083.1:p.Asp4485Tyr
XM_005250027.3:c.13453G>T XP_005250084.1:p.Asp4485Tyr
XM_005250028.3:c.13456G>T XP_005250085.1:p.Asp4486Tyr
XM_005250031.3:c.13291G>T XP_005250088.1:p.Asp4431Tyr
XM_006716077.2:c.13453G>T XP_006716140.1:p.Asp4485Tyr
XM_006716078.2:c.13384G>T XP_006716141.1:p.Asp4462Tyr
XM_006716079.2:c.13288G>T XP_006716142.1:p.Asp4430Tyr
XM_011516450.1:c.13408G>T XP_011514752.1:p.Asp4470Tyr
XM_011516451.1:c.13336G>T XP_011514753.1:p.Asp4446Tyr
XM_011516452.1:c.13303G>T XP_011514754.1:p.Asp4435Tyr
XM_011516453.1:c.13219G>T XP_011514755.1:p.Asp4407Tyr
XM_011516454.1:c.12541G>T XP_011514756.1:p.Asp4181Tyr
XM_011516455.1:c.11002G>T XP_011514757.1:p.Asp3668Tyr
XM_011516456.1:c.13408G>T XP_011514758.1:p.Asp4470Tyr
XM_005250025.4:c.13456G>T XP_005250082.1:p.Asp4486Tyr
XM_005250026.3:c.13453G>T XP_005250083.1:p.Asp4485Tyr
XM_005250027.4:c.13453G>T XP_005250084.1:p.Asp4485Tyr
XM_005250028.4:c.13456G>T XP_005250085.1:p.Asp4486Tyr
XM_005250031.4:c.13291G>T XP_005250088.1:p.Asp4431Tyr
XM_006716077.3:c.13453G>T XP_006716140.1:p.Asp4485Tyr
XM_006716078.3:c.13384G>T XP_006716141.1:p.Asp4462Tyr
XM_006716079.3:c.13288G>T XP_006716142.1:p.Asp4430Tyr
XM_011516450.2:c.13408G>T XP_011514752.1:p.Asp4470Tyr
XM_011516451.2:c.13336G>T XP_011514753.1:p.Asp4446Tyr
XM_011516452.2:c.13303G>T XP_011514754.1:p.Asp4435Tyr
XM_011516453.2:c.13219G>T XP_011514755.1:p.Asp4407Tyr
XM_011516454.2:c.12541G>T XP_011514756.1:p.Asp4181Tyr
XM_011516456.2:c.13408G>T XP_011514758.1:p.Asp4470Tyr
XM_017012480.1:c.13456G>T XP_016867969.1:p.Asp4486Tyr
XM_017012481.1:c.13453G>T XP_016867970.1:p.Asp4485Tyr
XM_017012482.1:c.13453G>T XP_016867971.1:p.Asp4485Tyr
XM_017012483.1:c.13453G>T XP_016867972.1:p.Asp4485Tyr
XM_017012484.1:c.13423G>T XP_016867973.1:p.Asp4475Tyr
XM_017012485.1:c.13405G>T XP_016867974.1:p.Asp4469Tyr
XM_017012486.1:c.13381G>T XP_016867975.1:p.Asp4461Tyr
XM_017012487.1:c.13309G>T XP_016867976.1:p.Asp4437Tyr
XM_017012488.1:c.13273G>T XP_016867977.1:p.Asp4425Tyr
XM_017012489.1:c.10126G>T XP_016867978.1:p.Asp3376Tyr
XM_017012490.2:c.9730G>T XP_016867979.1:p.Asp3244Tyr
XM_024446852.1:c.13453G>T XP_024302620.1:p.Asp4485Tyr
XM_024446853.1:c.13381G>T XP_024302621.1:p.Asp4461Tyr
NM_170606.3:c.13240G>T MANE Select NP_733751.2:p.Asp4414Tyr