Canonical Allele Identifier: CA370095441

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152181558G>A , CM000669.2:g.152181558G>A	GRCh38
NC_000007.13:g.151878643G>A , CM000669.1:g.151878643G>A	GRCh37
NC_000007.12:g.151509576G>A	NCBI36
NG_033948.1:g.259448C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.6302C>T MANE Select	NP_733751.2:p.Pro2101Leu
ENST00000262189.11:c.6302C>T MANE Select	ENSP00000262189.6:p.Pro2101Leu
NM_170606.2:c.6302C>T	NP_733751.2:p.Pro2101Leu
ENST00000262189.10:c.6302C>T	ENSP00000262189.6:p.Pro2101Leu
ENST00000355193.6:c.6302C>T	ENSP00000347325.3:p.Pro2101Leu
ENST00000360104.8:c.1924C>T
ENST00000473186.5:n.4013C>T
ENST00000558084.5:c.*3822C>T	ENSP00000453752.1:n.*3822C>T
ENST00000558665.1:c.63+599C>T	ENSP00000454058.1:n.63+599C>T
ENST00000558665.2:c.438+599C>T	ENSP00000454058.2:n.438+599C>T
ENST00000679560.1:c.1037C>T	ENSP00000505094.1:p.Pro346Leu
ENST00000679645.1:c.*2395C>T	ENSP00000505745.1:n.*2395C>T
ENST00000679882.1:c.6077C>T	ENSP00000506154.1:p.Pro2026Leu
ENST00000680877.1:c.1037C>T	ENSP00000505724.1:p.Pro346Leu
ENST00000680969.1:c.3698C>T	ENSP00000505951.1:p.Pro1233Leu
ENST00000681033.1:c.5000C>T	ENSP00000505058.1:p.Pro1667Leu
ENST00000682176.1:c.3021C>T
ENST00000682283.1:c.6302C>T	ENSP00000507485.1:p.Pro2101Leu
ENST00000683159.1:c.1612C>T
ENST00000683200.1:c.3650C>T	ENSP00000508052.1:p.Pro1217Leu
ENST00000683397.1:c.1037C>T	ENSP00000507053.1:p.Pro346Leu
ENST00000683625.1:c.1037C>T	ENSP00000507769.1:p.Pro346Leu
ENST00000683670.1:c.1037C>T	ENSP00000507634.1:p.Pro346Leu
ENST00000684261.1:c.1037C>T	ENSP00000508097.1:p.Pro346Leu
ENST00000684307.1:c.1037C>T	ENSP00000507202.1:p.Pro346Leu
ENST00000684398.1:c.1037C>T	ENSP00000507254.1:p.Pro346Leu
XM_005250025.3:c.6353C>T	XP_005250082.1:p.Pro2118Leu
XM_005250025.4:c.6353C>T	XP_005250082.1:p.Pro2118Leu
XM_005250026.2:c.6350C>T	XP_005250083.1:p.Pro2117Leu
XM_005250026.3:c.6350C>T	XP_005250083.1:p.Pro2117Leu
XM_005250027.3:c.6353C>T	XP_005250084.1:p.Pro2118Leu
XM_005250027.4:c.6353C>T	XP_005250084.1:p.Pro2118Leu
XM_005250028.3:c.6353C>T	XP_005250085.1:p.Pro2118Leu
XM_005250028.4:c.6353C>T	XP_005250085.1:p.Pro2118Leu
XM_005250031.3:c.6353C>T	XP_005250088.1:p.Pro2118Leu
XM_005250031.4:c.6353C>T	XP_005250088.1:p.Pro2118Leu
XM_006716077.2:c.6353C>T	XP_006716140.1:p.Pro2118Leu
XM_006716077.3:c.6353C>T	XP_006716140.1:p.Pro2118Leu
XM_006716078.2:c.6353C>T	XP_006716141.1:p.Pro2118Leu
XM_006716078.3:c.6353C>T	XP_006716141.1:p.Pro2118Leu
XM_006716079.2:c.6353C>T	XP_006716142.1:p.Pro2118Leu
XM_006716079.3:c.6353C>T	XP_006716142.1:p.Pro2118Leu
XM_011516450.1:c.6305C>T	XP_011514752.1:p.Pro2102Leu
XM_011516450.2:c.6305C>T	XP_011514752.1:p.Pro2102Leu
XM_011516451.1:c.6233C>T	XP_011514753.1:p.Pro2078Leu
XM_011516451.2:c.6233C>T	XP_011514753.1:p.Pro2078Leu
XM_011516452.1:c.6200C>T	XP_011514754.1:p.Pro2067Leu
XM_011516452.2:c.6200C>T	XP_011514754.1:p.Pro2067Leu
XM_011516453.1:c.6353C>T	XP_011514755.1:p.Pro2118Leu
XM_011516453.2:c.6353C>T	XP_011514755.1:p.Pro2118Leu
XM_011516454.1:c.5438C>T	XP_011514756.1:p.Pro1813Leu
XM_011516454.2:c.5438C>T	XP_011514756.1:p.Pro1813Leu
XM_011516455.1:c.3899C>T	XP_011514757.1:p.Pro1300Leu
XM_011516456.1:c.6305C>T	XP_011514758.1:p.Pro2102Leu
XM_011516456.2:c.6305C>T	XP_011514758.1:p.Pro2102Leu
XM_017012480.1:c.6353C>T	XP_016867969.1:p.Pro2118Leu
XM_017012481.1:c.6350C>T	XP_016867970.1:p.Pro2117Leu
XM_017012482.1:c.6353C>T	XP_016867971.1:p.Pro2118Leu
XM_017012483.1:c.6353C>T	XP_016867972.1:p.Pro2118Leu
XM_017012484.1:c.6320C>T	XP_016867973.1:p.Pro2107Leu
XM_017012485.1:c.6302C>T	XP_016867974.1:p.Pro2101Leu
XM_017012486.1:c.6353C>T	XP_016867975.1:p.Pro2118Leu
XM_017012487.1:c.6206C>T	XP_016867976.1:p.Pro2069Leu
XM_017012488.1:c.6170C>T	XP_016867977.1:p.Pro2057Leu
XM_017012489.1:c.3023C>T	XP_016867978.1:p.Pro1008Leu
XM_017012490.2:c.2627C>T	XP_016867979.1:p.Pro876Leu
XM_024446852.1:c.6350C>T	XP_024302620.1:p.Pro2117Leu
XM_024446853.1:c.6353C>T	XP_024302621.1:p.Pro2118Leu
XR_428183.2:n.6561C>T
XR_428183.3:n.6585C>T