Canonical Allele Identifier: CA370093107
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148803C>G , CM000669.2:g.152148803C>G GRCh38
NC_000007.13:g.151845888C>G , CM000669.1:g.151845888C>G GRCh37
NC_000007.12:g.151476821C>G NCBI36
NG_033948.1:g.292203G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1312G>C
ENST00000682116.1:n.2256G>C
ENST00000682283.1:c.13295G>C ENSP00000507485.1:p.Cys4432Ser
ENST00000682629.1:n.2424G>C
ENST00000683120.1:n.8316G>C
ENST00000683178.1:c.3697G>C
ENST00000683200.1:c.10634G>C ENSP00000508052.1:p.Cys3545Ser
ENST00000683337.1:n.4754G>C
ENST00000683502.1:c.3769G>C
ENST00000683621.1:n.1890G>C
ENST00000683640.1:n.1840G>C
ENST00000684069.1:c.1541G>C ENSP00000507650.1:p.Cys514Ser
ENST00000684261.1:c.8021G>C ENSP00000508097.1:p.Cys2674Ser
ENST00000684649.1:c.3769G>C
ENST00000262189.11:c.13124G>C MANE Select ENSP00000262189.6:p.Cys4375Ser
ENST00000360104.8:c.8911G>C
ENST00000418061.2:c.3766G>C
ENST00000424877.6:c.3700G>C
ENST00000679393.1:n.7835G>C
ENST00000679560.1:c.8024G>C ENSP00000505094.1:p.Cys2675Ser
ENST00000679882.1:c.12689G>C ENSP00000506154.1:p.Cys4230Ser
ENST00000680029.1:c.3701G>C
ENST00000680877.1:c.8024G>C ENSP00000505724.1:p.Cys2675Ser
ENST00000681923.1:n.2139G>C
ENST00000262189.10:c.13124G>C ENSP00000262189.6:p.Cys4375Ser
ENST00000355193.6:c.13124G>C ENSP00000347325.3:p.Cys4375Ser
ENST00000360104.7:c.5805G>C
ENST00000424877.5:c.2975G>C ENSP00000410411.1:p.Cys992Ser
ENST00000473186.5:n.11006G>C
ENST00000558084.5:c.*10644G>C ENSP00000453752.1:n.*10644G>C
NM_170606.2:c.13124G>C NP_733751.2:p.Cys4375Ser
XM_005250025.3:c.13340G>C XP_005250082.1:p.Cys4447Ser
XM_005250026.2:c.13337G>C XP_005250083.1:p.Cys4446Ser
XM_005250027.3:c.13337G>C XP_005250084.1:p.Cys4446Ser
XM_005250028.3:c.13340G>C XP_005250085.1:p.Cys4447Ser
XM_005250031.3:c.13175G>C XP_005250088.1:p.Cys4392Ser
XM_006716077.2:c.13337G>C XP_006716140.1:p.Cys4446Ser
XM_006716078.2:c.13268G>C XP_006716141.1:p.Cys4423Ser
XM_006716079.2:c.13172G>C XP_006716142.1:p.Cys4391Ser
XM_011516450.1:c.13292G>C XP_011514752.1:p.Cys4431Ser
XM_011516451.1:c.13220G>C XP_011514753.1:p.Cys4407Ser
XM_011516452.1:c.13187G>C XP_011514754.1:p.Cys4396Ser
XM_011516453.1:c.13103G>C XP_011514755.1:p.Cys4368Ser
XM_011516454.1:c.12425G>C XP_011514756.1:p.Cys4142Ser
XM_011516455.1:c.10886G>C XP_011514757.1:p.Cys3629Ser
XM_011516456.1:c.13292G>C XP_011514758.1:p.Cys4431Ser
XM_005250025.4:c.13340G>C XP_005250082.1:p.Cys4447Ser
XM_005250026.3:c.13337G>C XP_005250083.1:p.Cys4446Ser
XM_005250027.4:c.13337G>C XP_005250084.1:p.Cys4446Ser
XM_005250028.4:c.13340G>C XP_005250085.1:p.Cys4447Ser
XM_005250031.4:c.13175G>C XP_005250088.1:p.Cys4392Ser
XM_006716077.3:c.13337G>C XP_006716140.1:p.Cys4446Ser
XM_006716078.3:c.13268G>C XP_006716141.1:p.Cys4423Ser
XM_006716079.3:c.13172G>C XP_006716142.1:p.Cys4391Ser
XM_011516450.2:c.13292G>C XP_011514752.1:p.Cys4431Ser
XM_011516451.2:c.13220G>C XP_011514753.1:p.Cys4407Ser
XM_011516452.2:c.13187G>C XP_011514754.1:p.Cys4396Ser
XM_011516453.2:c.13103G>C XP_011514755.1:p.Cys4368Ser
XM_011516454.2:c.12425G>C XP_011514756.1:p.Cys4142Ser
XM_011516456.2:c.13292G>C XP_011514758.1:p.Cys4431Ser
XM_017012480.1:c.13340G>C XP_016867969.1:p.Cys4447Ser
XM_017012481.1:c.13337G>C XP_016867970.1:p.Cys4446Ser
XM_017012482.1:c.13337G>C XP_016867971.1:p.Cys4446Ser
XM_017012483.1:c.13337G>C XP_016867972.1:p.Cys4446Ser
XM_017012484.1:c.13307G>C XP_016867973.1:p.Cys4436Ser
XM_017012485.1:c.13289G>C XP_016867974.1:p.Cys4430Ser
XM_017012486.1:c.13265G>C XP_016867975.1:p.Cys4422Ser
XM_017012487.1:c.13193G>C XP_016867976.1:p.Cys4398Ser
XM_017012488.1:c.13157G>C XP_016867977.1:p.Cys4386Ser
XM_017012489.1:c.10010G>C XP_016867978.1:p.Cys3337Ser
XM_017012490.2:c.9614G>C XP_016867979.1:p.Cys3205Ser
XM_024446852.1:c.13337G>C XP_024302620.1:p.Cys4446Ser
XM_024446853.1:c.13265G>C XP_024302621.1:p.Cys4422Ser
NM_170606.3:c.13124G>C MANE Select NP_733751.2:p.Cys4375Ser