Canonical Allele Identifier: CA4580153

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152181903C>T , CM000669.2:g.152181903C>T	GRCh38
NC_000007.13:g.151878988C>T , CM000669.1:g.151878988C>T	GRCh37
NC_000007.12:g.151509921C>T	NCBI36
NG_033948.1:g.259103G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.5957G>A MANE Select	NP_733751.2:p.Arg1986Gln
ENST00000262189.11:c.5957G>A MANE Select	ENSP00000262189.6:p.Arg1986Gln
NM_170606.2:c.5957G>A	NP_733751.2:p.Arg1986Gln
ENST00000262189.10:c.5957G>A	ENSP00000262189.6:p.Arg1986Gln
ENST00000355193.6:c.5957G>A	ENSP00000347325.3:p.Arg1986Gln
ENST00000360104.8:c.1579G>A
ENST00000473186.5:n.3668G>A
ENST00000558084.5:c.*3477G>A	ENSP00000453752.1:n.*3477G>A
ENST00000558665.1:c.63+254G>A	ENSP00000454058.1:n.63+254G>A
ENST00000558665.2:c.438+254G>A	ENSP00000454058.2:n.438+254G>A
ENST00000679560.1:c.692G>A	ENSP00000505094.1:p.Arg231Gln
ENST00000679645.1:c.*2050G>A	ENSP00000505745.1:n.*2050G>A
ENST00000679882.1:c.5732G>A	ENSP00000506154.1:p.Arg1911Gln
ENST00000680877.1:c.692G>A	ENSP00000505724.1:p.Arg231Gln
ENST00000680969.1:c.3353G>A	ENSP00000505951.1:p.Arg1118Gln
ENST00000681033.1:c.4655G>A	ENSP00000505058.1:p.Arg1552Gln
ENST00000682176.1:c.2676G>A
ENST00000682283.1:c.5957G>A	ENSP00000507485.1:p.Arg1986Gln
ENST00000683159.1:c.1267G>A
ENST00000683200.1:c.3305G>A	ENSP00000508052.1:p.Arg1102Gln
ENST00000683397.1:c.692G>A	ENSP00000507053.1:p.Arg231Gln
ENST00000683625.1:c.692G>A	ENSP00000507769.1:p.Arg231Gln
ENST00000683670.1:c.692G>A	ENSP00000507634.1:p.Arg231Gln
ENST00000684261.1:c.692G>A	ENSP00000508097.1:p.Arg231Gln
ENST00000684307.1:c.692G>A	ENSP00000507202.1:p.Arg231Gln
ENST00000684398.1:c.692G>A	ENSP00000507254.1:p.Arg231Gln
XM_005250025.3:c.6008G>A	XP_005250082.1:p.Arg2003Gln
XM_005250025.4:c.6008G>A	XP_005250082.1:p.Arg2003Gln
XM_005250026.2:c.6005G>A	XP_005250083.1:p.Arg2002Gln
XM_005250026.3:c.6005G>A	XP_005250083.1:p.Arg2002Gln
XM_005250027.3:c.6008G>A	XP_005250084.1:p.Arg2003Gln
XM_005250027.4:c.6008G>A	XP_005250084.1:p.Arg2003Gln
XM_005250028.3:c.6008G>A	XP_005250085.1:p.Arg2003Gln
XM_005250028.4:c.6008G>A	XP_005250085.1:p.Arg2003Gln
XM_005250031.3:c.6008G>A	XP_005250088.1:p.Arg2003Gln
XM_005250031.4:c.6008G>A	XP_005250088.1:p.Arg2003Gln
XM_006716077.2:c.6008G>A	XP_006716140.1:p.Arg2003Gln
XM_006716077.3:c.6008G>A	XP_006716140.1:p.Arg2003Gln
XM_006716078.2:c.6008G>A	XP_006716141.1:p.Arg2003Gln
XM_006716078.3:c.6008G>A	XP_006716141.1:p.Arg2003Gln
XM_006716079.2:c.6008G>A	XP_006716142.1:p.Arg2003Gln
XM_006716079.3:c.6008G>A	XP_006716142.1:p.Arg2003Gln
XM_011516450.1:c.5960G>A	XP_011514752.1:p.Arg1987Gln
XM_011516450.2:c.5960G>A	XP_011514752.1:p.Arg1987Gln
XM_011516451.1:c.5888G>A	XP_011514753.1:p.Arg1963Gln
XM_011516451.2:c.5888G>A	XP_011514753.1:p.Arg1963Gln
XM_011516452.1:c.5855G>A	XP_011514754.1:p.Arg1952Gln
XM_011516452.2:c.5855G>A	XP_011514754.1:p.Arg1952Gln
XM_011516453.1:c.6008G>A	XP_011514755.1:p.Arg2003Gln
XM_011516453.2:c.6008G>A	XP_011514755.1:p.Arg2003Gln
XM_011516454.1:c.5093G>A	XP_011514756.1:p.Arg1698Gln
XM_011516454.2:c.5093G>A	XP_011514756.1:p.Arg1698Gln
XM_011516455.1:c.3554G>A	XP_011514757.1:p.Arg1185Gln
XM_011516456.1:c.5960G>A	XP_011514758.1:p.Arg1987Gln
XM_011516456.2:c.5960G>A	XP_011514758.1:p.Arg1987Gln
XM_017012480.1:c.6008G>A	XP_016867969.1:p.Arg2003Gln
XM_017012481.1:c.6005G>A	XP_016867970.1:p.Arg2002Gln
XM_017012482.1:c.6008G>A	XP_016867971.1:p.Arg2003Gln
XM_017012483.1:c.6008G>A	XP_016867972.1:p.Arg2003Gln
XM_017012484.1:c.5975G>A	XP_016867973.1:p.Arg1992Gln
XM_017012485.1:c.5957G>A	XP_016867974.1:p.Arg1986Gln
XM_017012486.1:c.6008G>A	XP_016867975.1:p.Arg2003Gln
XM_017012487.1:c.5861G>A	XP_016867976.1:p.Arg1954Gln
XM_017012488.1:c.5825G>A	XP_016867977.1:p.Arg1942Gln
XM_017012489.1:c.2678G>A	XP_016867978.1:p.Arg893Gln
XM_017012490.2:c.2282G>A	XP_016867979.1:p.Arg761Gln
XM_024446852.1:c.6005G>A	XP_024302620.1:p.Arg2002Gln
XM_024446853.1:c.6008G>A	XP_024302621.1:p.Arg2003Gln
XR_428183.2:n.6216G>A
XR_428183.3:n.6240G>A