Canonical Allele Identifier: CA370092920
Gene: KMT2C HGNC NCBI

Linked Data

dbSNP Id: rs2091367190

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148749T>C , CM000669.2:g.152148749T>C GRCh38
NC_000007.13:g.151845834T>C , CM000669.1:g.151845834T>C GRCh37
NC_000007.12:g.151476767T>C NCBI36
NG_033948.1:g.292257A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1366A>G
ENST00000682116.1:n.2310A>G
ENST00000682283.1:c.13349A>G ENSP00000507485.1:p.Asp4450Gly
ENST00000682629.1:n.2478A>G
ENST00000683120.1:n.8370A>G
ENST00000683178.1:c.3751A>G
ENST00000683200.1:c.10688A>G ENSP00000508052.1:p.Asp3563Gly
ENST00000683337.1:n.4808A>G
ENST00000683502.1:c.3823A>G
ENST00000683621.1:n.1944A>G
ENST00000683640.1:n.1894A>G
ENST00000684069.1:c.1595A>G ENSP00000507650.1:p.Asp532Gly
ENST00000684261.1:c.8075A>G ENSP00000508097.1:p.Asp2692Gly
ENST00000684649.1:c.3823A>G
ENST00000262189.11:c.13178A>G MANE Select ENSP00000262189.6:p.Asp4393Gly
ENST00000360104.8:c.8965A>G
ENST00000418061.2:c.3820A>G
ENST00000424877.6:c.3754A>G
ENST00000679393.1:n.7889A>G
ENST00000679560.1:c.8078A>G ENSP00000505094.1:p.Asp2693Gly
ENST00000679882.1:c.12743A>G ENSP00000506154.1:p.Asp4248Gly
ENST00000680029.1:c.3755A>G
ENST00000680877.1:c.8078A>G ENSP00000505724.1:p.Asp2693Gly
ENST00000681923.1:n.2193A>G
ENST00000262189.10:c.13178A>G ENSP00000262189.6:p.Asp4393Gly
ENST00000355193.6:c.13178A>G ENSP00000347325.3:p.Asp4393Gly
ENST00000360104.7:c.5859A>G
ENST00000424877.5:c.3029A>G ENSP00000410411.1:p.Asp1010Gly
ENST00000473186.5:n.11060A>G
ENST00000558084.5:c.*10698A>G ENSP00000453752.1:n.*10698A>G
NM_170606.2:c.13178A>G NP_733751.2:p.Asp4393Gly
XM_005250025.3:c.13394A>G XP_005250082.1:p.Asp4465Gly
XM_005250026.2:c.13391A>G XP_005250083.1:p.Asp4464Gly
XM_005250027.3:c.13391A>G XP_005250084.1:p.Asp4464Gly
XM_005250028.3:c.13394A>G XP_005250085.1:p.Asp4465Gly
XM_005250031.3:c.13229A>G XP_005250088.1:p.Asp4410Gly
XM_006716077.2:c.13391A>G XP_006716140.1:p.Asp4464Gly
XM_006716078.2:c.13322A>G XP_006716141.1:p.Asp4441Gly
XM_006716079.2:c.13226A>G XP_006716142.1:p.Asp4409Gly
XM_011516450.1:c.13346A>G XP_011514752.1:p.Asp4449Gly
XM_011516451.1:c.13274A>G XP_011514753.1:p.Asp4425Gly
XM_011516452.1:c.13241A>G XP_011514754.1:p.Asp4414Gly
XM_011516453.1:c.13157A>G XP_011514755.1:p.Asp4386Gly
XM_011516454.1:c.12479A>G XP_011514756.1:p.Asp4160Gly
XM_011516455.1:c.10940A>G XP_011514757.1:p.Asp3647Gly
XM_011516456.1:c.13346A>G XP_011514758.1:p.Asp4449Gly
XM_005250025.4:c.13394A>G XP_005250082.1:p.Asp4465Gly
XM_005250026.3:c.13391A>G XP_005250083.1:p.Asp4464Gly
XM_005250027.4:c.13391A>G XP_005250084.1:p.Asp4464Gly
XM_005250028.4:c.13394A>G XP_005250085.1:p.Asp4465Gly
XM_005250031.4:c.13229A>G XP_005250088.1:p.Asp4410Gly
XM_006716077.3:c.13391A>G XP_006716140.1:p.Asp4464Gly
XM_006716078.3:c.13322A>G XP_006716141.1:p.Asp4441Gly
XM_006716079.3:c.13226A>G XP_006716142.1:p.Asp4409Gly
XM_011516450.2:c.13346A>G XP_011514752.1:p.Asp4449Gly
XM_011516451.2:c.13274A>G XP_011514753.1:p.Asp4425Gly
XM_011516452.2:c.13241A>G XP_011514754.1:p.Asp4414Gly
XM_011516453.2:c.13157A>G XP_011514755.1:p.Asp4386Gly
XM_011516454.2:c.12479A>G XP_011514756.1:p.Asp4160Gly
XM_011516456.2:c.13346A>G XP_011514758.1:p.Asp4449Gly
XM_017012480.1:c.13394A>G XP_016867969.1:p.Asp4465Gly
XM_017012481.1:c.13391A>G XP_016867970.1:p.Asp4464Gly
XM_017012482.1:c.13391A>G XP_016867971.1:p.Asp4464Gly
XM_017012483.1:c.13391A>G XP_016867972.1:p.Asp4464Gly
XM_017012484.1:c.13361A>G XP_016867973.1:p.Asp4454Gly
XM_017012485.1:c.13343A>G XP_016867974.1:p.Asp4448Gly
XM_017012486.1:c.13319A>G XP_016867975.1:p.Asp4440Gly
XM_017012487.1:c.13247A>G XP_016867976.1:p.Asp4416Gly
XM_017012488.1:c.13211A>G XP_016867977.1:p.Asp4404Gly
XM_017012489.1:c.10064A>G XP_016867978.1:p.Asp3355Gly
XM_017012490.2:c.9668A>G XP_016867979.1:p.Asp3223Gly
XM_024446852.1:c.13391A>G XP_024302620.1:p.Asp4464Gly
XM_024446853.1:c.13319A>G XP_024302621.1:p.Asp4440Gly
NM_170606.3:c.13178A>G MANE Select NP_733751.2:p.Asp4393Gly