Canonical Allele Identifier: CA370100066

Gene: KMT2C

Linked Data

• MyVariant Identifiers: chr7:g.151880128A>C (hg19) ; chr7:g.152183043A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183043A>C , CM000669.2:g.152183043A>C	GRCh38
NC_000007.13:g.151880128A>C , CM000669.1:g.151880128A>C	GRCh37
NC_000007.12:g.151511061A>C	NCBI36
NG_033948.1:g.257963T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682176.1:c.1915T>G
ENST00000682283.1:c.5196T>G	ENSP00000507485.1:p.Asp1732Glu
ENST00000683159.1:c.576-449T>G
ENST00000683200.1:c.2544T>G	ENSP00000508052.1:p.Asp848Glu
ENST00000262189.11:c.5196T>G MANE Select	ENSP00000262189.6:p.Asp1732Glu
ENST00000360104.8:c.818T>G
ENST00000679645.1:c.*1289T>G	ENSP00000505745.1:n.*1289T>G
ENST00000679882.1:c.4971T>G	ENSP00000506154.1:p.Asp1657Glu
ENST00000680969.1:c.2592T>G	ENSP00000505951.1:p.Asp864Glu
ENST00000681033.1:c.3894T>G	ENSP00000505058.1:p.Asp1298Glu
ENST00000681755.1:n.121T>G
ENST00000262189.10:c.5196T>G	ENSP00000262189.6:p.Asp1732Glu
ENST00000355193.6:c.5196T>G	ENSP00000347325.3:p.Asp1732Glu
ENST00000473186.5:n.2907T>G
ENST00000558084.5:c.*2716T>G	ENSP00000453752.1:n.*2716T>G
NM_170606.2:c.5196T>G	NP_733751.2:p.Asp1732Glu
XM_005250025.3:c.5247T>G	XP_005250082.1:p.Asp1749Glu
XM_005250026.2:c.5244T>G	XP_005250083.1:p.Asp1748Glu
XM_005250027.3:c.5247T>G	XP_005250084.1:p.Asp1749Glu
XM_005250028.3:c.5247T>G	XP_005250085.1:p.Asp1749Glu
XM_005250031.3:c.5247T>G	XP_005250088.1:p.Asp1749Glu
XM_006716077.2:c.5247T>G	XP_006716140.1:p.Asp1749Glu
XM_006716078.2:c.5247T>G	XP_006716141.1:p.Asp1749Glu
XM_006716079.2:c.5247T>G	XP_006716142.1:p.Asp1749Glu
XM_011516450.1:c.5199T>G	XP_011514752.1:p.Asp1733Glu
XM_011516451.1:c.5127T>G	XP_011514753.1:p.Asp1709Glu
XM_011516452.1:c.5094T>G	XP_011514754.1:p.Asp1698Glu
XM_011516453.1:c.5247T>G	XP_011514755.1:p.Asp1749Glu
XM_011516454.1:c.4332T>G	XP_011514756.1:p.Asp1444Glu
XM_011516455.1:c.2793T>G	XP_011514757.1:p.Asp931Glu
XM_011516456.1:c.5199T>G	XP_011514758.1:p.Asp1733Glu
XR_428183.2:n.5455T>G
XM_005250025.4:c.5247T>G	XP_005250082.1:p.Asp1749Glu
XM_005250026.3:c.5244T>G	XP_005250083.1:p.Asp1748Glu
XM_005250027.4:c.5247T>G	XP_005250084.1:p.Asp1749Glu
XM_005250028.4:c.5247T>G	XP_005250085.1:p.Asp1749Glu
XM_005250031.4:c.5247T>G	XP_005250088.1:p.Asp1749Glu
XM_006716077.3:c.5247T>G	XP_006716140.1:p.Asp1749Glu
XM_006716078.3:c.5247T>G	XP_006716141.1:p.Asp1749Glu
XM_006716079.3:c.5247T>G	XP_006716142.1:p.Asp1749Glu
XM_011516450.2:c.5199T>G	XP_011514752.1:p.Asp1733Glu
XM_011516451.2:c.5127T>G	XP_011514753.1:p.Asp1709Glu
XM_011516452.2:c.5094T>G	XP_011514754.1:p.Asp1698Glu
XM_011516453.2:c.5247T>G	XP_011514755.1:p.Asp1749Glu
XM_011516454.2:c.4332T>G	XP_011514756.1:p.Asp1444Glu
XM_011516456.2:c.5199T>G	XP_011514758.1:p.Asp1733Glu
XM_017012480.1:c.5247T>G	XP_016867969.1:p.Asp1749Glu
XM_017012481.1:c.5244T>G	XP_016867970.1:p.Asp1748Glu
XM_017012482.1:c.5247T>G	XP_016867971.1:p.Asp1749Glu
XM_017012483.1:c.5247T>G	XP_016867972.1:p.Asp1749Glu
XM_017012484.1:c.5214T>G	XP_016867973.1:p.Asp1738Glu
XM_017012485.1:c.5196T>G	XP_016867974.1:p.Asp1732Glu
XM_017012486.1:c.5247T>G	XP_016867975.1:p.Asp1749Glu
XM_017012487.1:c.5100T>G	XP_016867976.1:p.Asp1700Glu
XM_017012488.1:c.5134-449T>G	XP_016867977.1:n.5134-449T>G
XM_017012489.1:c.1917T>G	XP_016867978.1:p.Asp639Glu
XM_017012490.2:c.1521T>G	XP_016867979.1:p.Asp507Glu
XM_024446852.1:c.5244T>G	XP_024302620.1:p.Asp1748Glu
XM_024446853.1:c.5247T>G	XP_024302621.1:p.Asp1749Glu
XR_428183.3:n.5479T>G
NM_170606.3:c.5196T>G MANE Select	NP_733751.2:p.Asp1732Glu