Canonical Allele Identifier: CA1139660351

Gene: KMT2C

Linked Data

• ClinVar Variation Id: 982915
• ClinVar RCV Id: RCV001262648
• dbSNP Id: rs2093489078

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152183155dup , CM000669.2:g.152183155dup	GRCh38
NC_000007.13:g.151880240dup , CM000669.1:g.151880240dup	GRCh37
NC_000007.12:g.151511173dup	NCBI36
NG_033948.1:g.257855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682176.1:c.1807dup
ENST00000682283.1:c.5088dup	ENSP00000507485.1:p.Ala1697SerfsTer4
ENST00000683159.1:c.576-557dup
ENST00000683200.1:c.2436dup	ENSP00000508052.1:p.Ala813SerfsTer4
ENST00000262189.11:c.5088dup MANE Select	ENSP00000262189.6:p.Ala1697SerfsTer4
ENST00000360104.8:c.710dup
ENST00000679645.1:c.*1181dup	ENSP00000505745.1:n.*1181dup
ENST00000679882.1:c.4863dup	ENSP00000506154.1:p.Ala1622SerfsTer4
ENST00000680969.1:c.2484dup	ENSP00000505951.1:p.Ala829SerfsTer4
ENST00000681033.1:c.3786dup	ENSP00000505058.1:p.Ala1263SerfsTer4
ENST00000681755.1:n.13dup
ENST00000262189.10:c.5088dup	ENSP00000262189.6:p.Ala1697SerfsTer4
ENST00000355193.6:c.5088dup	ENSP00000347325.3:p.Ala1697SerfsTer4
ENST00000473186.5:n.2799dup
ENST00000558084.5:c.*2608dup	ENSP00000453752.1:n.*2608dup
NM_170606.2:c.5088dup	NP_733751.2:p.Ala1697SerfsTer4
XM_005250025.3:c.5139dup	XP_005250082.1:p.Ala1714SerfsTer4
XM_005250026.2:c.5136dup	XP_005250083.1:p.Ala1713SerfsTer4
XM_005250027.3:c.5139dup	XP_005250084.1:p.Ala1714SerfsTer4
XM_005250028.3:c.5139dup	XP_005250085.1:p.Ala1714SerfsTer4
XM_005250031.3:c.5139dup	XP_005250088.1:p.Ala1714SerfsTer4
XM_006716077.2:c.5139dup	XP_006716140.1:p.Ala1714SerfsTer4
XM_006716078.2:c.5139dup	XP_006716141.1:p.Ala1714SerfsTer4
XM_006716079.2:c.5139dup	XP_006716142.1:p.Ala1714SerfsTer4
XM_011516450.1:c.5091dup	XP_011514752.1:p.Ala1698SerfsTer4
XM_011516451.1:c.5019dup	XP_011514753.1:p.Ala1674SerfsTer4
XM_011516452.1:c.4986dup	XP_011514754.1:p.Ala1663SerfsTer4
XM_011516453.1:c.5139dup	XP_011514755.1:p.Ala1714SerfsTer4
XM_011516454.1:c.4224dup	XP_011514756.1:p.Ala1409SerfsTer4
XM_011516455.1:c.2685dup	XP_011514757.1:p.Ala896SerfsTer4
XM_011516456.1:c.5091dup	XP_011514758.1:p.Ala1698SerfsTer4
XR_428183.2:n.5347dup
XM_005250025.4:c.5139dup	XP_005250082.1:p.Ala1714SerfsTer4
XM_005250026.3:c.5136dup	XP_005250083.1:p.Ala1713SerfsTer4
XM_005250027.4:c.5139dup	XP_005250084.1:p.Ala1714SerfsTer4
XM_005250028.4:c.5139dup	XP_005250085.1:p.Ala1714SerfsTer4
XM_005250031.4:c.5139dup	XP_005250088.1:p.Ala1714SerfsTer4
XM_006716077.3:c.5139dup	XP_006716140.1:p.Ala1714SerfsTer4
XM_006716078.3:c.5139dup	XP_006716141.1:p.Ala1714SerfsTer4
XM_006716079.3:c.5139dup	XP_006716142.1:p.Ala1714SerfsTer4
XM_011516450.2:c.5091dup	XP_011514752.1:p.Ala1698SerfsTer4
XM_011516451.2:c.5019dup	XP_011514753.1:p.Ala1674SerfsTer4
XM_011516452.2:c.4986dup	XP_011514754.1:p.Ala1663SerfsTer4
XM_011516453.2:c.5139dup	XP_011514755.1:p.Ala1714SerfsTer4
XM_011516454.2:c.4224dup	XP_011514756.1:p.Ala1409SerfsTer4
XM_011516456.2:c.5091dup	XP_011514758.1:p.Ala1698SerfsTer4
XM_017012480.1:c.5139dup	XP_016867969.1:p.Ala1714SerfsTer4
XM_017012481.1:c.5136dup	XP_016867970.1:p.Ala1713SerfsTer4
XM_017012482.1:c.5139dup	XP_016867971.1:p.Ala1714SerfsTer4
XM_017012483.1:c.5139dup	XP_016867972.1:p.Ala1714SerfsTer4
XM_017012484.1:c.5106dup	XP_016867973.1:p.Ala1703SerfsTer4
XM_017012485.1:c.5088dup	XP_016867974.1:p.Ala1697SerfsTer4
XM_017012486.1:c.5139dup	XP_016867975.1:p.Ala1714SerfsTer4
XM_017012487.1:c.4992dup	XP_016867976.1:p.Ala1665SerfsTer4
XM_017012488.1:c.5134-557dup	XP_016867977.1:n.5134-557dup
XM_017012489.1:c.1809dup	XP_016867978.1:p.Ala604SerfsTer4
XM_017012490.2:c.1413dup	XP_016867979.1:p.Ala472SerfsTer4
XM_024446852.1:c.5136dup	XP_024302620.1:p.Ala1713SerfsTer4
XM_024446853.1:c.5139dup	XP_024302621.1:p.Ala1714SerfsTer4
XR_428183.3:n.5371dup
NM_170606.3:c.5088dup MANE Select	NP_733751.2:p.Ala1697SerfsTer4