Canonical Allele Identifier: CA4579949

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152180727G>C , CM000669.2:g.152180727G>C	GRCh38
NC_000007.13:g.151877812G>C , CM000669.1:g.151877812G>C	GRCh37
NC_000007.12:g.151508745G>C	NCBI36
NG_033948.1:g.260279C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.7133C>G MANE Select	NP_733751.2:p.Thr2378Arg
ENST00000262189.11:c.7133C>G MANE Select	ENSP00000262189.6:p.Thr2378Arg
NM_170606.2:c.7133C>G	NP_733751.2:p.Thr2378Arg
ENST00000262189.10:c.7133C>G	ENSP00000262189.6:p.Thr2378Arg
ENST00000355193.6:c.7133C>G	ENSP00000347325.3:p.Thr2378Arg
ENST00000360104.8:c.2755C>G
ENST00000473186.5:n.4844C>G
ENST00000558084.5:c.*4653C>G	ENSP00000453752.1:n.*4653C>G
ENST00000558665.1:c.64-601C>G	ENSP00000454058.1:n.64-601C>G
ENST00000558665.2:c.439-601C>G	ENSP00000454058.2:n.439-601C>G
ENST00000679393.1:n.624C>G
ENST00000679560.1:c.1868C>G	ENSP00000505094.1:p.Thr623Arg
ENST00000679645.1:c.*3226C>G	ENSP00000505745.1:n.*3226C>G
ENST00000679882.1:c.6908C>G	ENSP00000506154.1:p.Thr2303Arg
ENST00000680877.1:c.1868C>G	ENSP00000505724.1:p.Thr623Arg
ENST00000680969.1:c.4529C>G	ENSP00000505951.1:p.Thr1510Arg
ENST00000681033.1:c.5831C>G	ENSP00000505058.1:p.Thr1944Arg
ENST00000682176.1:c.3852C>G
ENST00000682283.1:c.7133C>G	ENSP00000507485.1:p.Thr2378Arg
ENST00000683159.1:c.2443C>G
ENST00000683200.1:c.4481C>G	ENSP00000508052.1:p.Thr1494Arg
ENST00000683397.1:c.1868C>G	ENSP00000507053.1:p.Thr623Arg
ENST00000683625.1:c.1868C>G	ENSP00000507769.1:p.Thr623Arg
ENST00000683670.1:c.1868C>G	ENSP00000507634.1:p.Thr623Arg
ENST00000684261.1:c.1868C>G	ENSP00000508097.1:p.Thr623Arg
ENST00000684307.1:c.1868C>G	ENSP00000507202.1:p.Thr623Arg
ENST00000684398.1:c.1868C>G	ENSP00000507254.1:p.Thr623Arg
XM_005250025.3:c.7184C>G	XP_005250082.1:p.Thr2395Arg
XM_005250025.4:c.7184C>G	XP_005250082.1:p.Thr2395Arg
XM_005250026.2:c.7181C>G	XP_005250083.1:p.Thr2394Arg
XM_005250026.3:c.7181C>G	XP_005250083.1:p.Thr2394Arg
XM_005250027.3:c.7184C>G	XP_005250084.1:p.Thr2395Arg
XM_005250027.4:c.7184C>G	XP_005250084.1:p.Thr2395Arg
XM_005250028.3:c.7184C>G	XP_005250085.1:p.Thr2395Arg
XM_005250028.4:c.7184C>G	XP_005250085.1:p.Thr2395Arg
XM_005250031.3:c.7184C>G	XP_005250088.1:p.Thr2395Arg
XM_005250031.4:c.7184C>G	XP_005250088.1:p.Thr2395Arg
XM_006716077.2:c.7184C>G	XP_006716140.1:p.Thr2395Arg
XM_006716077.3:c.7184C>G	XP_006716140.1:p.Thr2395Arg
XM_006716078.2:c.7184C>G	XP_006716141.1:p.Thr2395Arg
XM_006716078.3:c.7184C>G	XP_006716141.1:p.Thr2395Arg
XM_006716079.2:c.7184C>G	XP_006716142.1:p.Thr2395Arg
XM_006716079.3:c.7184C>G	XP_006716142.1:p.Thr2395Arg
XM_011516450.1:c.7136C>G	XP_011514752.1:p.Thr2379Arg
XM_011516450.2:c.7136C>G	XP_011514752.1:p.Thr2379Arg
XM_011516451.1:c.7064C>G	XP_011514753.1:p.Thr2355Arg
XM_011516451.2:c.7064C>G	XP_011514753.1:p.Thr2355Arg
XM_011516452.1:c.7031C>G	XP_011514754.1:p.Thr2344Arg
XM_011516452.2:c.7031C>G	XP_011514754.1:p.Thr2344Arg
XM_011516453.1:c.7184C>G	XP_011514755.1:p.Thr2395Arg
XM_011516453.2:c.7184C>G	XP_011514755.1:p.Thr2395Arg
XM_011516454.1:c.6269C>G	XP_011514756.1:p.Thr2090Arg
XM_011516454.2:c.6269C>G	XP_011514756.1:p.Thr2090Arg
XM_011516455.1:c.4730C>G	XP_011514757.1:p.Thr1577Arg
XM_011516456.1:c.7136C>G	XP_011514758.1:p.Thr2379Arg
XM_011516456.2:c.7136C>G	XP_011514758.1:p.Thr2379Arg
XM_017012480.1:c.7184C>G	XP_016867969.1:p.Thr2395Arg
XM_017012481.1:c.7181C>G	XP_016867970.1:p.Thr2394Arg
XM_017012482.1:c.7184C>G	XP_016867971.1:p.Thr2395Arg
XM_017012483.1:c.7184C>G	XP_016867972.1:p.Thr2395Arg
XM_017012484.1:c.7151C>G	XP_016867973.1:p.Thr2384Arg
XM_017012485.1:c.7133C>G	XP_016867974.1:p.Thr2378Arg
XM_017012486.1:c.7184C>G	XP_016867975.1:p.Thr2395Arg
XM_017012487.1:c.7037C>G	XP_016867976.1:p.Thr2346Arg
XM_017012488.1:c.7001C>G	XP_016867977.1:p.Thr2334Arg
XM_017012489.1:c.3854C>G	XP_016867978.1:p.Thr1285Arg
XM_017012490.2:c.3458C>G	XP_016867979.1:p.Thr1153Arg
XM_024446852.1:c.7181C>G	XP_024302620.1:p.Thr2394Arg
XM_024446853.1:c.7184C>G	XP_024302621.1:p.Thr2395Arg
XR_428183.2:n.7392C>G
XR_428183.3:n.7416C>G