Canonical Allele Identifier: CA370091819
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148674C>A , CM000669.2:g.152148674C>A GRCh38
NC_000007.13:g.151845759C>A , CM000669.1:g.151845759C>A GRCh37
NC_000007.12:g.151476692C>A NCBI36
NG_033948.1:g.292332G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1441G>T
ENST00000682116.1:n.2385G>T
ENST00000682283.1:c.13424G>T ENSP00000507485.1:p.Arg4475Met
ENST00000682629.1:n.2553G>T
ENST00000683120.1:n.8445G>T
ENST00000683178.1:c.3826G>T
ENST00000683200.1:c.10763G>T ENSP00000508052.1:p.Arg3588Met
ENST00000683337.1:n.4883G>T
ENST00000683502.1:c.3898G>T
ENST00000683621.1:n.2019G>T
ENST00000683640.1:n.1969G>T
ENST00000684069.1:c.1670G>T ENSP00000507650.1:p.Arg557Met
ENST00000684261.1:c.8150G>T ENSP00000508097.1:p.Arg2717Met
ENST00000684391.1:n.11G>T
ENST00000684649.1:c.3898G>T
ENST00000262189.11:c.13253G>T MANE Select ENSP00000262189.6:p.Arg4418Met
ENST00000360104.8:c.9040G>T
ENST00000418061.2:c.3895G>T
ENST00000424877.6:c.3829G>T
ENST00000679393.1:n.7964G>T
ENST00000679560.1:c.8153G>T ENSP00000505094.1:p.Arg2718Met
ENST00000679882.1:c.12818G>T ENSP00000506154.1:p.Arg4273Met
ENST00000680029.1:c.3830G>T
ENST00000680877.1:c.8153G>T ENSP00000505724.1:p.Arg2718Met
ENST00000681923.1:n.2268G>T
ENST00000262189.10:c.13253G>T ENSP00000262189.6:p.Arg4418Met
ENST00000355193.6:c.13253G>T ENSP00000347325.3:p.Arg4418Met
ENST00000360104.7:c.5934G>T
ENST00000424877.5:c.3104G>T ENSP00000410411.1:p.Arg1035Met
ENST00000473186.5:n.11135G>T
ENST00000558084.5:c.*10773G>T ENSP00000453752.1:n.*10773G>T
NM_170606.2:c.13253G>T NP_733751.2:p.Arg4418Met
XM_005250025.3:c.13469G>T XP_005250082.1:p.Arg4490Met
XM_005250026.2:c.13466G>T XP_005250083.1:p.Arg4489Met
XM_005250027.3:c.13466G>T XP_005250084.1:p.Arg4489Met
XM_005250028.3:c.13469G>T XP_005250085.1:p.Arg4490Met
XM_005250031.3:c.13304G>T XP_005250088.1:p.Arg4435Met
XM_006716077.2:c.13466G>T XP_006716140.1:p.Arg4489Met
XM_006716078.2:c.13397G>T XP_006716141.1:p.Arg4466Met
XM_006716079.2:c.13301G>T XP_006716142.1:p.Arg4434Met
XM_011516450.1:c.13421G>T XP_011514752.1:p.Arg4474Met
XM_011516451.1:c.13349G>T XP_011514753.1:p.Arg4450Met
XM_011516452.1:c.13316G>T XP_011514754.1:p.Arg4439Met
XM_011516453.1:c.13232G>T XP_011514755.1:p.Arg4411Met
XM_011516454.1:c.12554G>T XP_011514756.1:p.Arg4185Met
XM_011516455.1:c.11015G>T XP_011514757.1:p.Arg3672Met
XM_011516456.1:c.13421G>T XP_011514758.1:p.Arg4474Met
XM_005250025.4:c.13469G>T XP_005250082.1:p.Arg4490Met
XM_005250026.3:c.13466G>T XP_005250083.1:p.Arg4489Met
XM_005250027.4:c.13466G>T XP_005250084.1:p.Arg4489Met
XM_005250028.4:c.13469G>T XP_005250085.1:p.Arg4490Met
XM_005250031.4:c.13304G>T XP_005250088.1:p.Arg4435Met
XM_006716077.3:c.13466G>T XP_006716140.1:p.Arg4489Met
XM_006716078.3:c.13397G>T XP_006716141.1:p.Arg4466Met
XM_006716079.3:c.13301G>T XP_006716142.1:p.Arg4434Met
XM_011516450.2:c.13421G>T XP_011514752.1:p.Arg4474Met
XM_011516451.2:c.13349G>T XP_011514753.1:p.Arg4450Met
XM_011516452.2:c.13316G>T XP_011514754.1:p.Arg4439Met
XM_011516453.2:c.13232G>T XP_011514755.1:p.Arg4411Met
XM_011516454.2:c.12554G>T XP_011514756.1:p.Arg4185Met
XM_011516456.2:c.13421G>T XP_011514758.1:p.Arg4474Met
XM_017012480.1:c.13469G>T XP_016867969.1:p.Arg4490Met
XM_017012481.1:c.13466G>T XP_016867970.1:p.Arg4489Met
XM_017012482.1:c.13466G>T XP_016867971.1:p.Arg4489Met
XM_017012483.1:c.13466G>T XP_016867972.1:p.Arg4489Met
XM_017012484.1:c.13436G>T XP_016867973.1:p.Arg4479Met
XM_017012485.1:c.13418G>T XP_016867974.1:p.Arg4473Met
XM_017012486.1:c.13394G>T XP_016867975.1:p.Arg4465Met
XM_017012487.1:c.13322G>T XP_016867976.1:p.Arg4441Met
XM_017012488.1:c.13286G>T XP_016867977.1:p.Arg4429Met
XM_017012489.1:c.10139G>T XP_016867978.1:p.Arg3380Met
XM_017012490.2:c.9743G>T XP_016867979.1:p.Arg3248Met
XM_024446852.1:c.13466G>T XP_024302620.1:p.Arg4489Met
XM_024446853.1:c.13394G>T XP_024302621.1:p.Arg4465Met
NM_170606.3:c.13253G>T MANE Select NP_733751.2:p.Arg4418Met