Canonical Allele Identifier: CA4580098

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152181552G>C , CM000669.2:g.152181552G>C	GRCh38
NC_000007.13:g.151878637G>C , CM000669.1:g.151878637G>C	GRCh37
NC_000007.12:g.151509570G>C	NCBI36
NG_033948.1:g.259454C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.6308C>G MANE Select	NP_733751.2:p.Pro2103Arg
ENST00000262189.11:c.6308C>G MANE Select	ENSP00000262189.6:p.Pro2103Arg
NM_170606.2:c.6308C>G	NP_733751.2:p.Pro2103Arg
ENST00000262189.10:c.6308C>G	ENSP00000262189.6:p.Pro2103Arg
ENST00000355193.6:c.6308C>G	ENSP00000347325.3:p.Pro2103Arg
ENST00000360104.8:c.1930C>G
ENST00000473186.5:n.4019C>G
ENST00000558084.5:c.*3828C>G	ENSP00000453752.1:n.*3828C>G
ENST00000558665.1:c.63+605C>G	ENSP00000454058.1:n.63+605C>G
ENST00000558665.2:c.438+605C>G	ENSP00000454058.2:n.438+605C>G
ENST00000679560.1:c.1043C>G	ENSP00000505094.1:p.Pro348Arg
ENST00000679645.1:c.*2401C>G	ENSP00000505745.1:n.*2401C>G
ENST00000679882.1:c.6083C>G	ENSP00000506154.1:p.Pro2028Arg
ENST00000680877.1:c.1043C>G	ENSP00000505724.1:p.Pro348Arg
ENST00000680969.1:c.3704C>G	ENSP00000505951.1:p.Pro1235Arg
ENST00000681033.1:c.5006C>G	ENSP00000505058.1:p.Pro1669Arg
ENST00000682176.1:c.3027C>G
ENST00000682283.1:c.6308C>G	ENSP00000507485.1:p.Pro2103Arg
ENST00000683159.1:c.1618C>G
ENST00000683200.1:c.3656C>G	ENSP00000508052.1:p.Pro1219Arg
ENST00000683397.1:c.1043C>G	ENSP00000507053.1:p.Pro348Arg
ENST00000683625.1:c.1043C>G	ENSP00000507769.1:p.Pro348Arg
ENST00000683670.1:c.1043C>G	ENSP00000507634.1:p.Pro348Arg
ENST00000684261.1:c.1043C>G	ENSP00000508097.1:p.Pro348Arg
ENST00000684307.1:c.1043C>G	ENSP00000507202.1:p.Pro348Arg
ENST00000684398.1:c.1043C>G	ENSP00000507254.1:p.Pro348Arg
XM_005250025.3:c.6359C>G	XP_005250082.1:p.Pro2120Arg
XM_005250025.4:c.6359C>G	XP_005250082.1:p.Pro2120Arg
XM_005250026.2:c.6356C>G	XP_005250083.1:p.Pro2119Arg
XM_005250026.3:c.6356C>G	XP_005250083.1:p.Pro2119Arg
XM_005250027.3:c.6359C>G	XP_005250084.1:p.Pro2120Arg
XM_005250027.4:c.6359C>G	XP_005250084.1:p.Pro2120Arg
XM_005250028.3:c.6359C>G	XP_005250085.1:p.Pro2120Arg
XM_005250028.4:c.6359C>G	XP_005250085.1:p.Pro2120Arg
XM_005250031.3:c.6359C>G	XP_005250088.1:p.Pro2120Arg
XM_005250031.4:c.6359C>G	XP_005250088.1:p.Pro2120Arg
XM_006716077.2:c.6359C>G	XP_006716140.1:p.Pro2120Arg
XM_006716077.3:c.6359C>G	XP_006716140.1:p.Pro2120Arg
XM_006716078.2:c.6359C>G	XP_006716141.1:p.Pro2120Arg
XM_006716078.3:c.6359C>G	XP_006716141.1:p.Pro2120Arg
XM_006716079.2:c.6359C>G	XP_006716142.1:p.Pro2120Arg
XM_006716079.3:c.6359C>G	XP_006716142.1:p.Pro2120Arg
XM_011516450.1:c.6311C>G	XP_011514752.1:p.Pro2104Arg
XM_011516450.2:c.6311C>G	XP_011514752.1:p.Pro2104Arg
XM_011516451.1:c.6239C>G	XP_011514753.1:p.Pro2080Arg
XM_011516451.2:c.6239C>G	XP_011514753.1:p.Pro2080Arg
XM_011516452.1:c.6206C>G	XP_011514754.1:p.Pro2069Arg
XM_011516452.2:c.6206C>G	XP_011514754.1:p.Pro2069Arg
XM_011516453.1:c.6359C>G	XP_011514755.1:p.Pro2120Arg
XM_011516453.2:c.6359C>G	XP_011514755.1:p.Pro2120Arg
XM_011516454.1:c.5444C>G	XP_011514756.1:p.Pro1815Arg
XM_011516454.2:c.5444C>G	XP_011514756.1:p.Pro1815Arg
XM_011516455.1:c.3905C>G	XP_011514757.1:p.Pro1302Arg
XM_011516456.1:c.6311C>G	XP_011514758.1:p.Pro2104Arg
XM_011516456.2:c.6311C>G	XP_011514758.1:p.Pro2104Arg
XM_017012480.1:c.6359C>G	XP_016867969.1:p.Pro2120Arg
XM_017012481.1:c.6356C>G	XP_016867970.1:p.Pro2119Arg
XM_017012482.1:c.6359C>G	XP_016867971.1:p.Pro2120Arg
XM_017012483.1:c.6359C>G	XP_016867972.1:p.Pro2120Arg
XM_017012484.1:c.6326C>G	XP_016867973.1:p.Pro2109Arg
XM_017012485.1:c.6308C>G	XP_016867974.1:p.Pro2103Arg
XM_017012486.1:c.6359C>G	XP_016867975.1:p.Pro2120Arg
XM_017012487.1:c.6212C>G	XP_016867976.1:p.Pro2071Arg
XM_017012488.1:c.6176C>G	XP_016867977.1:p.Pro2059Arg
XM_017012489.1:c.3029C>G	XP_016867978.1:p.Pro1010Arg
XM_017012490.2:c.2633C>G	XP_016867979.1:p.Pro878Arg
XM_024446852.1:c.6356C>G	XP_024302620.1:p.Pro2119Arg
XM_024446853.1:c.6359C>G	XP_024302621.1:p.Pro2120Arg
XR_428183.2:n.6567C>G
XR_428183.3:n.6591C>G