Canonical Allele Identifier: CA169220829
Gene: KMT2C HGNC NCBI

Linked Data

dbSNP Id: rs983346356

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148787A>C , CM000669.2:g.152148787A>C GRCh38
NC_000007.13:g.151845872A>C , CM000669.1:g.151845872A>C GRCh37
NC_000007.12:g.151476805A>C NCBI36
NG_033948.1:g.292219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1328T>G
ENST00000682116.1:n.2272T>G
ENST00000682283.1:c.13311T>G ENSP00000507485.1:p.Asp4437Glu
ENST00000682629.1:n.2440T>G
ENST00000683120.1:n.8332T>G
ENST00000683178.1:c.3713T>G
ENST00000683200.1:c.10650T>G ENSP00000508052.1:p.Asp3550Glu
ENST00000683337.1:n.4770T>G
ENST00000683502.1:c.3785T>G
ENST00000683621.1:n.1906T>G
ENST00000683640.1:n.1856T>G
ENST00000684069.1:c.1557T>G ENSP00000507650.1:p.Asp519Glu
ENST00000684261.1:c.8037T>G ENSP00000508097.1:p.Asp2679Glu
ENST00000684649.1:c.3785T>G
ENST00000262189.11:c.13140T>G MANE Select ENSP00000262189.6:p.Asp4380Glu
ENST00000360104.8:c.8927T>G
ENST00000418061.2:c.3782T>G
ENST00000424877.6:c.3716T>G
ENST00000679393.1:n.7851T>G
ENST00000679560.1:c.8040T>G ENSP00000505094.1:p.Asp2680Glu
ENST00000679882.1:c.12705T>G ENSP00000506154.1:p.Asp4235Glu
ENST00000680029.1:c.3717T>G
ENST00000680877.1:c.8040T>G ENSP00000505724.1:p.Asp2680Glu
ENST00000681923.1:n.2155T>G
ENST00000262189.10:c.13140T>G ENSP00000262189.6:p.Asp4380Glu
ENST00000355193.6:c.13140T>G ENSP00000347325.3:p.Asp4380Glu
ENST00000360104.7:c.5821T>G
ENST00000424877.5:c.2991T>G ENSP00000410411.1:p.Asp997Glu
ENST00000473186.5:n.11022T>G
ENST00000558084.5:c.*10660T>G ENSP00000453752.1:n.*10660T>G
NM_170606.2:c.13140T>G NP_733751.2:p.Asp4380Glu
XM_005250025.3:c.13356T>G XP_005250082.1:p.Asp4452Glu
XM_005250026.2:c.13353T>G XP_005250083.1:p.Asp4451Glu
XM_005250027.3:c.13353T>G XP_005250084.1:p.Asp4451Glu
XM_005250028.3:c.13356T>G XP_005250085.1:p.Asp4452Glu
XM_005250031.3:c.13191T>G XP_005250088.1:p.Asp4397Glu
XM_006716077.2:c.13353T>G XP_006716140.1:p.Asp4451Glu
XM_006716078.2:c.13284T>G XP_006716141.1:p.Asp4428Glu
XM_006716079.2:c.13188T>G XP_006716142.1:p.Asp4396Glu
XM_011516450.1:c.13308T>G XP_011514752.1:p.Asp4436Glu
XM_011516451.1:c.13236T>G XP_011514753.1:p.Asp4412Glu
XM_011516452.1:c.13203T>G XP_011514754.1:p.Asp4401Glu
XM_011516453.1:c.13119T>G XP_011514755.1:p.Asp4373Glu
XM_011516454.1:c.12441T>G XP_011514756.1:p.Asp4147Glu
XM_011516455.1:c.10902T>G XP_011514757.1:p.Asp3634Glu
XM_011516456.1:c.13308T>G XP_011514758.1:p.Asp4436Glu
XM_005250025.4:c.13356T>G XP_005250082.1:p.Asp4452Glu
XM_005250026.3:c.13353T>G XP_005250083.1:p.Asp4451Glu
XM_005250027.4:c.13353T>G XP_005250084.1:p.Asp4451Glu
XM_005250028.4:c.13356T>G XP_005250085.1:p.Asp4452Glu
XM_005250031.4:c.13191T>G XP_005250088.1:p.Asp4397Glu
XM_006716077.3:c.13353T>G XP_006716140.1:p.Asp4451Glu
XM_006716078.3:c.13284T>G XP_006716141.1:p.Asp4428Glu
XM_006716079.3:c.13188T>G XP_006716142.1:p.Asp4396Glu
XM_011516450.2:c.13308T>G XP_011514752.1:p.Asp4436Glu
XM_011516451.2:c.13236T>G XP_011514753.1:p.Asp4412Glu
XM_011516452.2:c.13203T>G XP_011514754.1:p.Asp4401Glu
XM_011516453.2:c.13119T>G XP_011514755.1:p.Asp4373Glu
XM_011516454.2:c.12441T>G XP_011514756.1:p.Asp4147Glu
XM_011516456.2:c.13308T>G XP_011514758.1:p.Asp4436Glu
XM_017012480.1:c.13356T>G XP_016867969.1:p.Asp4452Glu
XM_017012481.1:c.13353T>G XP_016867970.1:p.Asp4451Glu
XM_017012482.1:c.13353T>G XP_016867971.1:p.Asp4451Glu
XM_017012483.1:c.13353T>G XP_016867972.1:p.Asp4451Glu
XM_017012484.1:c.13323T>G XP_016867973.1:p.Asp4441Glu
XM_017012485.1:c.13305T>G XP_016867974.1:p.Asp4435Glu
XM_017012486.1:c.13281T>G XP_016867975.1:p.Asp4427Glu
XM_017012487.1:c.13209T>G XP_016867976.1:p.Asp4403Glu
XM_017012488.1:c.13173T>G XP_016867977.1:p.Asp4391Glu
XM_017012489.1:c.10026T>G XP_016867978.1:p.Asp3342Glu
XM_017012490.2:c.9630T>G XP_016867979.1:p.Asp3210Glu
XM_024446852.1:c.13353T>G XP_024302620.1:p.Asp4451Glu
XM_024446853.1:c.13281T>G XP_024302621.1:p.Asp4427Glu
NM_170606.3:c.13140T>G MANE Select NP_733751.2:p.Asp4380Glu