Canonical Allele Identifier: CA370093025
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148782A>T , CM000669.2:g.152148782A>T GRCh38
NC_000007.13:g.151845867A>T , CM000669.1:g.151845867A>T GRCh37
NC_000007.12:g.151476800A>T NCBI36
NG_033948.1:g.292224T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1333T>A
ENST00000682116.1:n.2277T>A
ENST00000682283.1:c.13316T>A ENSP00000507485.1:p.Phe4439Tyr
ENST00000682629.1:n.2445T>A
ENST00000683120.1:n.8337T>A
ENST00000683178.1:c.3718T>A
ENST00000683200.1:c.10655T>A ENSP00000508052.1:p.Phe3552Tyr
ENST00000683337.1:n.4775T>A
ENST00000683502.1:c.3790T>A
ENST00000683621.1:n.1911T>A
ENST00000683640.1:n.1861T>A
ENST00000684069.1:c.1562T>A ENSP00000507650.1:p.Phe521Tyr
ENST00000684261.1:c.8042T>A ENSP00000508097.1:p.Phe2681Tyr
ENST00000684649.1:c.3790T>A
ENST00000262189.11:c.13145T>A MANE Select ENSP00000262189.6:p.Phe4382Tyr
ENST00000360104.8:c.8932T>A
ENST00000418061.2:c.3787T>A
ENST00000424877.6:c.3721T>A
ENST00000679393.1:n.7856T>A
ENST00000679560.1:c.8045T>A ENSP00000505094.1:p.Phe2682Tyr
ENST00000679882.1:c.12710T>A ENSP00000506154.1:p.Phe4237Tyr
ENST00000680029.1:c.3722T>A
ENST00000680877.1:c.8045T>A ENSP00000505724.1:p.Phe2682Tyr
ENST00000681923.1:n.2160T>A
ENST00000262189.10:c.13145T>A ENSP00000262189.6:p.Phe4382Tyr
ENST00000355193.6:c.13145T>A ENSP00000347325.3:p.Phe4382Tyr
ENST00000360104.7:c.5826T>A
ENST00000424877.5:c.2996T>A ENSP00000410411.1:p.Phe999Tyr
ENST00000473186.5:n.11027T>A
ENST00000558084.5:c.*10665T>A ENSP00000453752.1:n.*10665T>A
NM_170606.2:c.13145T>A NP_733751.2:p.Phe4382Tyr
XM_005250025.3:c.13361T>A XP_005250082.1:p.Phe4454Tyr
XM_005250026.2:c.13358T>A XP_005250083.1:p.Phe4453Tyr
XM_005250027.3:c.13358T>A XP_005250084.1:p.Phe4453Tyr
XM_005250028.3:c.13361T>A XP_005250085.1:p.Phe4454Tyr
XM_005250031.3:c.13196T>A XP_005250088.1:p.Phe4399Tyr
XM_006716077.2:c.13358T>A XP_006716140.1:p.Phe4453Tyr
XM_006716078.2:c.13289T>A XP_006716141.1:p.Phe4430Tyr
XM_006716079.2:c.13193T>A XP_006716142.1:p.Phe4398Tyr
XM_011516450.1:c.13313T>A XP_011514752.1:p.Phe4438Tyr
XM_011516451.1:c.13241T>A XP_011514753.1:p.Phe4414Tyr
XM_011516452.1:c.13208T>A XP_011514754.1:p.Phe4403Tyr
XM_011516453.1:c.13124T>A XP_011514755.1:p.Phe4375Tyr
XM_011516454.1:c.12446T>A XP_011514756.1:p.Phe4149Tyr
XM_011516455.1:c.10907T>A XP_011514757.1:p.Phe3636Tyr
XM_011516456.1:c.13313T>A XP_011514758.1:p.Phe4438Tyr
XM_005250025.4:c.13361T>A XP_005250082.1:p.Phe4454Tyr
XM_005250026.3:c.13358T>A XP_005250083.1:p.Phe4453Tyr
XM_005250027.4:c.13358T>A XP_005250084.1:p.Phe4453Tyr
XM_005250028.4:c.13361T>A XP_005250085.1:p.Phe4454Tyr
XM_005250031.4:c.13196T>A XP_005250088.1:p.Phe4399Tyr
XM_006716077.3:c.13358T>A XP_006716140.1:p.Phe4453Tyr
XM_006716078.3:c.13289T>A XP_006716141.1:p.Phe4430Tyr
XM_006716079.3:c.13193T>A XP_006716142.1:p.Phe4398Tyr
XM_011516450.2:c.13313T>A XP_011514752.1:p.Phe4438Tyr
XM_011516451.2:c.13241T>A XP_011514753.1:p.Phe4414Tyr
XM_011516452.2:c.13208T>A XP_011514754.1:p.Phe4403Tyr
XM_011516453.2:c.13124T>A XP_011514755.1:p.Phe4375Tyr
XM_011516454.2:c.12446T>A XP_011514756.1:p.Phe4149Tyr
XM_011516456.2:c.13313T>A XP_011514758.1:p.Phe4438Tyr
XM_017012480.1:c.13361T>A XP_016867969.1:p.Phe4454Tyr
XM_017012481.1:c.13358T>A XP_016867970.1:p.Phe4453Tyr
XM_017012482.1:c.13358T>A XP_016867971.1:p.Phe4453Tyr
XM_017012483.1:c.13358T>A XP_016867972.1:p.Phe4453Tyr
XM_017012484.1:c.13328T>A XP_016867973.1:p.Phe4443Tyr
XM_017012485.1:c.13310T>A XP_016867974.1:p.Phe4437Tyr
XM_017012486.1:c.13286T>A XP_016867975.1:p.Phe4429Tyr
XM_017012487.1:c.13214T>A XP_016867976.1:p.Phe4405Tyr
XM_017012488.1:c.13178T>A XP_016867977.1:p.Phe4393Tyr
XM_017012489.1:c.10031T>A XP_016867978.1:p.Phe3344Tyr
XM_017012490.2:c.9635T>A XP_016867979.1:p.Phe3212Tyr
XM_024446852.1:c.13358T>A XP_024302620.1:p.Phe4453Tyr
XM_024446853.1:c.13286T>A XP_024302621.1:p.Phe4429Tyr
NM_170606.3:c.13145T>A MANE Select NP_733751.2:p.Phe4382Tyr