Canonical Allele Identifier: CA4580174

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152182009C>T , CM000669.2:g.152182009C>T	GRCh38
NC_000007.13:g.151879094C>T , CM000669.1:g.151879094C>T	GRCh37
NC_000007.12:g.151510027C>T	NCBI36
NG_033948.1:g.258997G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.5851G>A MANE Select	NP_733751.2:p.Asp1951Asn
ENST00000262189.11:c.5851G>A MANE Select	ENSP00000262189.6:p.Asp1951Asn
NM_170606.2:c.5851G>A	NP_733751.2:p.Asp1951Asn
ENST00000262189.10:c.5851G>A	ENSP00000262189.6:p.Asp1951Asn
ENST00000355193.6:c.5851G>A	ENSP00000347325.3:p.Asp1951Asn
ENST00000360104.8:c.1473G>A
ENST00000473186.5:n.3562G>A
ENST00000558084.5:c.*3371G>A	ENSP00000453752.1:n.*3371G>A
ENST00000558665.1:c.63+148G>A	ENSP00000454058.1:n.63+148G>A
ENST00000558665.2:c.438+148G>A	ENSP00000454058.2:n.438+148G>A
ENST00000679560.1:c.586G>A	ENSP00000505094.1:p.Asp196Asn
ENST00000679645.1:c.*1944G>A	ENSP00000505745.1:n.*1944G>A
ENST00000679882.1:c.5626G>A	ENSP00000506154.1:p.Asp1876Asn
ENST00000680877.1:c.586G>A	ENSP00000505724.1:p.Asp196Asn
ENST00000680969.1:c.3247G>A	ENSP00000505951.1:p.Asp1083Asn
ENST00000681033.1:c.4549G>A	ENSP00000505058.1:p.Asp1517Asn
ENST00000682176.1:c.2570G>A
ENST00000682283.1:c.5851G>A	ENSP00000507485.1:p.Asp1951Asn
ENST00000683159.1:c.1161G>A
ENST00000683200.1:c.3199G>A	ENSP00000508052.1:p.Asp1067Asn
ENST00000683397.1:c.586G>A	ENSP00000507053.1:p.Asp196Asn
ENST00000683625.1:c.586G>A	ENSP00000507769.1:p.Asp196Asn
ENST00000683670.1:c.586G>A	ENSP00000507634.1:p.Asp196Asn
ENST00000684261.1:c.586G>A	ENSP00000508097.1:p.Asp196Asn
ENST00000684307.1:c.586G>A	ENSP00000507202.1:p.Asp196Asn
ENST00000684398.1:c.586G>A	ENSP00000507254.1:p.Asp196Asn
XM_005250025.3:c.5902G>A	XP_005250082.1:p.Asp1968Asn
XM_005250025.4:c.5902G>A	XP_005250082.1:p.Asp1968Asn
XM_005250026.2:c.5899G>A	XP_005250083.1:p.Asp1967Asn
XM_005250026.3:c.5899G>A	XP_005250083.1:p.Asp1967Asn
XM_005250027.3:c.5902G>A	XP_005250084.1:p.Asp1968Asn
XM_005250027.4:c.5902G>A	XP_005250084.1:p.Asp1968Asn
XM_005250028.3:c.5902G>A	XP_005250085.1:p.Asp1968Asn
XM_005250028.4:c.5902G>A	XP_005250085.1:p.Asp1968Asn
XM_005250031.3:c.5902G>A	XP_005250088.1:p.Asp1968Asn
XM_005250031.4:c.5902G>A	XP_005250088.1:p.Asp1968Asn
XM_006716077.2:c.5902G>A	XP_006716140.1:p.Asp1968Asn
XM_006716077.3:c.5902G>A	XP_006716140.1:p.Asp1968Asn
XM_006716078.2:c.5902G>A	XP_006716141.1:p.Asp1968Asn
XM_006716078.3:c.5902G>A	XP_006716141.1:p.Asp1968Asn
XM_006716079.2:c.5902G>A	XP_006716142.1:p.Asp1968Asn
XM_006716079.3:c.5902G>A	XP_006716142.1:p.Asp1968Asn
XM_011516450.1:c.5854G>A	XP_011514752.1:p.Asp1952Asn
XM_011516450.2:c.5854G>A	XP_011514752.1:p.Asp1952Asn
XM_011516451.1:c.5782G>A	XP_011514753.1:p.Asp1928Asn
XM_011516451.2:c.5782G>A	XP_011514753.1:p.Asp1928Asn
XM_011516452.1:c.5749G>A	XP_011514754.1:p.Asp1917Asn
XM_011516452.2:c.5749G>A	XP_011514754.1:p.Asp1917Asn
XM_011516453.1:c.5902G>A	XP_011514755.1:p.Asp1968Asn
XM_011516453.2:c.5902G>A	XP_011514755.1:p.Asp1968Asn
XM_011516454.1:c.4987G>A	XP_011514756.1:p.Asp1663Asn
XM_011516454.2:c.4987G>A	XP_011514756.1:p.Asp1663Asn
XM_011516455.1:c.3448G>A	XP_011514757.1:p.Asp1150Asn
XM_011516456.1:c.5854G>A	XP_011514758.1:p.Asp1952Asn
XM_011516456.2:c.5854G>A	XP_011514758.1:p.Asp1952Asn
XM_017012480.1:c.5902G>A	XP_016867969.1:p.Asp1968Asn
XM_017012481.1:c.5899G>A	XP_016867970.1:p.Asp1967Asn
XM_017012482.1:c.5902G>A	XP_016867971.1:p.Asp1968Asn
XM_017012483.1:c.5902G>A	XP_016867972.1:p.Asp1968Asn
XM_017012484.1:c.5869G>A	XP_016867973.1:p.Asp1957Asn
XM_017012485.1:c.5851G>A	XP_016867974.1:p.Asp1951Asn
XM_017012486.1:c.5902G>A	XP_016867975.1:p.Asp1968Asn
XM_017012487.1:c.5755G>A	XP_016867976.1:p.Asp1919Asn
XM_017012488.1:c.5719G>A	XP_016867977.1:p.Asp1907Asn
XM_017012489.1:c.2572G>A	XP_016867978.1:p.Asp858Asn
XM_017012490.2:c.2176G>A	XP_016867979.1:p.Asp726Asn
XM_024446852.1:c.5899G>A	XP_024302620.1:p.Asp1967Asn
XM_024446853.1:c.5902G>A	XP_024302621.1:p.Asp1968Asn
XR_428183.2:n.6110G>A
XR_428183.3:n.6134G>A