Canonical Allele Identifier: CA370092007
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148712A>C , CM000669.2:g.152148712A>C GRCh38
NC_000007.13:g.151845797A>C , CM000669.1:g.151845797A>C GRCh37
NC_000007.12:g.151476730A>C NCBI36
NG_033948.1:g.292294T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1403T>G
ENST00000682116.1:n.2347T>G
ENST00000682283.1:c.13386T>G ENSP00000507485.1:p.Cys4462Trp
ENST00000682629.1:n.2515T>G
ENST00000683120.1:n.8407T>G
ENST00000683178.1:c.3788T>G
ENST00000683200.1:c.10725T>G ENSP00000508052.1:p.Cys3575Trp
ENST00000683337.1:n.4845T>G
ENST00000683502.1:c.3860T>G
ENST00000683621.1:n.1981T>G
ENST00000683640.1:n.1931T>G
ENST00000684069.1:c.1632T>G ENSP00000507650.1:p.Cys544Trp
ENST00000684261.1:c.8112T>G ENSP00000508097.1:p.Cys2704Trp
ENST00000684649.1:c.3860T>G
ENST00000262189.11:c.13215T>G MANE Select ENSP00000262189.6:p.Cys4405Trp
ENST00000360104.8:c.9002T>G
ENST00000418061.2:c.3857T>G
ENST00000424877.6:c.3791T>G
ENST00000679393.1:n.7926T>G
ENST00000679560.1:c.8115T>G ENSP00000505094.1:p.Cys2705Trp
ENST00000679882.1:c.12780T>G ENSP00000506154.1:p.Cys4260Trp
ENST00000680029.1:c.3792T>G
ENST00000680877.1:c.8115T>G ENSP00000505724.1:p.Cys2705Trp
ENST00000681923.1:n.2230T>G
ENST00000262189.10:c.13215T>G ENSP00000262189.6:p.Cys4405Trp
ENST00000355193.6:c.13215T>G ENSP00000347325.3:p.Cys4405Trp
ENST00000360104.7:c.5896T>G
ENST00000424877.5:c.3066T>G ENSP00000410411.1:p.Cys1022Trp
ENST00000473186.5:n.11097T>G
ENST00000558084.5:c.*10735T>G ENSP00000453752.1:n.*10735T>G
NM_170606.2:c.13215T>G NP_733751.2:p.Cys4405Trp
XM_005250025.3:c.13431T>G XP_005250082.1:p.Cys4477Trp
XM_005250026.2:c.13428T>G XP_005250083.1:p.Cys4476Trp
XM_005250027.3:c.13428T>G XP_005250084.1:p.Cys4476Trp
XM_005250028.3:c.13431T>G XP_005250085.1:p.Cys4477Trp
XM_005250031.3:c.13266T>G XP_005250088.1:p.Cys4422Trp
XM_006716077.2:c.13428T>G XP_006716140.1:p.Cys4476Trp
XM_006716078.2:c.13359T>G XP_006716141.1:p.Cys4453Trp
XM_006716079.2:c.13263T>G XP_006716142.1:p.Cys4421Trp
XM_011516450.1:c.13383T>G XP_011514752.1:p.Cys4461Trp
XM_011516451.1:c.13311T>G XP_011514753.1:p.Cys4437Trp
XM_011516452.1:c.13278T>G XP_011514754.1:p.Cys4426Trp
XM_011516453.1:c.13194T>G XP_011514755.1:p.Cys4398Trp
XM_011516454.1:c.12516T>G XP_011514756.1:p.Cys4172Trp
XM_011516455.1:c.10977T>G XP_011514757.1:p.Cys3659Trp
XM_011516456.1:c.13383T>G XP_011514758.1:p.Cys4461Trp
XM_005250025.4:c.13431T>G XP_005250082.1:p.Cys4477Trp
XM_005250026.3:c.13428T>G XP_005250083.1:p.Cys4476Trp
XM_005250027.4:c.13428T>G XP_005250084.1:p.Cys4476Trp
XM_005250028.4:c.13431T>G XP_005250085.1:p.Cys4477Trp
XM_005250031.4:c.13266T>G XP_005250088.1:p.Cys4422Trp
XM_006716077.3:c.13428T>G XP_006716140.1:p.Cys4476Trp
XM_006716078.3:c.13359T>G XP_006716141.1:p.Cys4453Trp
XM_006716079.3:c.13263T>G XP_006716142.1:p.Cys4421Trp
XM_011516450.2:c.13383T>G XP_011514752.1:p.Cys4461Trp
XM_011516451.2:c.13311T>G XP_011514753.1:p.Cys4437Trp
XM_011516452.2:c.13278T>G XP_011514754.1:p.Cys4426Trp
XM_011516453.2:c.13194T>G XP_011514755.1:p.Cys4398Trp
XM_011516454.2:c.12516T>G XP_011514756.1:p.Cys4172Trp
XM_011516456.2:c.13383T>G XP_011514758.1:p.Cys4461Trp
XM_017012480.1:c.13431T>G XP_016867969.1:p.Cys4477Trp
XM_017012481.1:c.13428T>G XP_016867970.1:p.Cys4476Trp
XM_017012482.1:c.13428T>G XP_016867971.1:p.Cys4476Trp
XM_017012483.1:c.13428T>G XP_016867972.1:p.Cys4476Trp
XM_017012484.1:c.13398T>G XP_016867973.1:p.Cys4466Trp
XM_017012485.1:c.13380T>G XP_016867974.1:p.Cys4460Trp
XM_017012486.1:c.13356T>G XP_016867975.1:p.Cys4452Trp
XM_017012487.1:c.13284T>G XP_016867976.1:p.Cys4428Trp
XM_017012488.1:c.13248T>G XP_016867977.1:p.Cys4416Trp
XM_017012489.1:c.10101T>G XP_016867978.1:p.Cys3367Trp
XM_017012490.2:c.9705T>G XP_016867979.1:p.Cys3235Trp
XM_024446852.1:c.13428T>G XP_024302620.1:p.Cys4476Trp
XM_024446853.1:c.13356T>G XP_024302621.1:p.Cys4452Trp
NM_170606.3:c.13215T>G MANE Select NP_733751.2:p.Cys4405Trp