Canonical Allele Identifier: CA370093140
Gene: KMT2C HGNC NCBI

Linked Data

dbSNP Id: rs1195009464

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148813T>C , CM000669.2:g.152148813T>C GRCh38
NC_000007.13:g.151845898T>C , CM000669.1:g.151845898T>C GRCh37
NC_000007.12:g.151476831T>C NCBI36
NG_033948.1:g.292193A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1302A>G
ENST00000682116.1:n.2246A>G
ENST00000682283.1:c.13285A>G ENSP00000507485.1:p.Lys4429Glu
ENST00000682629.1:n.2414A>G
ENST00000683120.1:n.8306A>G
ENST00000683178.1:c.3687A>G
ENST00000683200.1:c.10624A>G ENSP00000508052.1:p.Lys3542Glu
ENST00000683337.1:n.4744A>G
ENST00000683502.1:c.3759A>G
ENST00000683621.1:n.1880A>G
ENST00000683640.1:n.1830A>G
ENST00000684069.1:c.1531A>G ENSP00000507650.1:p.Lys511Glu
ENST00000684261.1:c.8011A>G ENSP00000508097.1:p.Lys2671Glu
ENST00000684649.1:c.3759A>G
ENST00000262189.11:c.13114A>G MANE Select ENSP00000262189.6:p.Lys4372Glu
ENST00000360104.8:c.8901A>G
ENST00000418061.2:c.3756A>G
ENST00000424877.6:c.3690A>G
ENST00000679393.1:n.7825A>G
ENST00000679560.1:c.8014A>G ENSP00000505094.1:p.Lys2672Glu
ENST00000679882.1:c.12679A>G ENSP00000506154.1:p.Lys4227Glu
ENST00000680029.1:c.3691A>G
ENST00000680877.1:c.8014A>G ENSP00000505724.1:p.Lys2672Glu
ENST00000681923.1:n.2129A>G
ENST00000262189.10:c.13114A>G ENSP00000262189.6:p.Lys4372Glu
ENST00000355193.6:c.13114A>G ENSP00000347325.3:p.Lys4372Glu
ENST00000360104.7:c.5795A>G
ENST00000424877.5:c.2965A>G ENSP00000410411.1:p.Lys989Glu
ENST00000473186.5:n.10996A>G
ENST00000558084.5:c.*10634A>G ENSP00000453752.1:n.*10634A>G
NM_170606.2:c.13114A>G NP_733751.2:p.Lys4372Glu
XM_005250025.3:c.13330A>G XP_005250082.1:p.Lys4444Glu
XM_005250026.2:c.13327A>G XP_005250083.1:p.Lys4443Glu
XM_005250027.3:c.13327A>G XP_005250084.1:p.Lys4443Glu
XM_005250028.3:c.13330A>G XP_005250085.1:p.Lys4444Glu
XM_005250031.3:c.13165A>G XP_005250088.1:p.Lys4389Glu
XM_006716077.2:c.13327A>G XP_006716140.1:p.Lys4443Glu
XM_006716078.2:c.13258A>G XP_006716141.1:p.Lys4420Glu
XM_006716079.2:c.13162A>G XP_006716142.1:p.Lys4388Glu
XM_011516450.1:c.13282A>G XP_011514752.1:p.Lys4428Glu
XM_011516451.1:c.13210A>G XP_011514753.1:p.Lys4404Glu
XM_011516452.1:c.13177A>G XP_011514754.1:p.Lys4393Glu
XM_011516453.1:c.13093A>G XP_011514755.1:p.Lys4365Glu
XM_011516454.1:c.12415A>G XP_011514756.1:p.Lys4139Glu
XM_011516455.1:c.10876A>G XP_011514757.1:p.Lys3626Glu
XM_011516456.1:c.13282A>G XP_011514758.1:p.Lys4428Glu
XM_005250025.4:c.13330A>G XP_005250082.1:p.Lys4444Glu
XM_005250026.3:c.13327A>G XP_005250083.1:p.Lys4443Glu
XM_005250027.4:c.13327A>G XP_005250084.1:p.Lys4443Glu
XM_005250028.4:c.13330A>G XP_005250085.1:p.Lys4444Glu
XM_005250031.4:c.13165A>G XP_005250088.1:p.Lys4389Glu
XM_006716077.3:c.13327A>G XP_006716140.1:p.Lys4443Glu
XM_006716078.3:c.13258A>G XP_006716141.1:p.Lys4420Glu
XM_006716079.3:c.13162A>G XP_006716142.1:p.Lys4388Glu
XM_011516450.2:c.13282A>G XP_011514752.1:p.Lys4428Glu
XM_011516451.2:c.13210A>G XP_011514753.1:p.Lys4404Glu
XM_011516452.2:c.13177A>G XP_011514754.1:p.Lys4393Glu
XM_011516453.2:c.13093A>G XP_011514755.1:p.Lys4365Glu
XM_011516454.2:c.12415A>G XP_011514756.1:p.Lys4139Glu
XM_011516456.2:c.13282A>G XP_011514758.1:p.Lys4428Glu
XM_017012480.1:c.13330A>G XP_016867969.1:p.Lys4444Glu
XM_017012481.1:c.13327A>G XP_016867970.1:p.Lys4443Glu
XM_017012482.1:c.13327A>G XP_016867971.1:p.Lys4443Glu
XM_017012483.1:c.13327A>G XP_016867972.1:p.Lys4443Glu
XM_017012484.1:c.13297A>G XP_016867973.1:p.Lys4433Glu
XM_017012485.1:c.13279A>G XP_016867974.1:p.Lys4427Glu
XM_017012486.1:c.13255A>G XP_016867975.1:p.Lys4419Glu
XM_017012487.1:c.13183A>G XP_016867976.1:p.Lys4395Glu
XM_017012488.1:c.13147A>G XP_016867977.1:p.Lys4383Glu
XM_017012489.1:c.10000A>G XP_016867978.1:p.Lys3334Glu
XM_017012490.2:c.9604A>G XP_016867979.1:p.Lys3202Glu
XM_024446852.1:c.13327A>G XP_024302620.1:p.Lys4443Glu
XM_024446853.1:c.13255A>G XP_024302621.1:p.Lys4419Glu
NM_170606.3:c.13114A>G MANE Select NP_733751.2:p.Lys4372Glu