Canonical Allele Identifier: CA370092999
Gene: KMT2C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148774T>A , CM000669.2:g.152148774T>A GRCh38
NC_000007.13:g.151845859T>A , CM000669.1:g.151845859T>A GRCh37
NC_000007.12:g.151476792T>A NCBI36
NG_033948.1:g.292232A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682040.1:c.1341A>T
ENST00000682116.1:n.2285A>T
ENST00000682283.1:c.13324A>T ENSP00000507485.1:p.Lys4442Ter
ENST00000682629.1:n.2453A>T
ENST00000683120.1:n.8345A>T
ENST00000683178.1:c.3726A>T
ENST00000683200.1:c.10663A>T ENSP00000508052.1:p.Lys3555Ter
ENST00000683337.1:n.4783A>T
ENST00000683502.1:c.3798A>T
ENST00000683621.1:n.1919A>T
ENST00000683640.1:n.1869A>T
ENST00000684069.1:c.1570A>T ENSP00000507650.1:p.Lys524Ter
ENST00000684261.1:c.8050A>T ENSP00000508097.1:p.Lys2684Ter
ENST00000684649.1:c.3798A>T
ENST00000262189.11:c.13153A>T MANE Select ENSP00000262189.6:p.Lys4385Ter
ENST00000360104.8:c.8940A>T
ENST00000418061.2:c.3795A>T
ENST00000424877.6:c.3729A>T
ENST00000679393.1:n.7864A>T
ENST00000679560.1:c.8053A>T ENSP00000505094.1:p.Lys2685Ter
ENST00000679882.1:c.12718A>T ENSP00000506154.1:p.Lys4240Ter
ENST00000680029.1:c.3730A>T
ENST00000680877.1:c.8053A>T ENSP00000505724.1:p.Lys2685Ter
ENST00000681923.1:n.2168A>T
ENST00000262189.10:c.13153A>T ENSP00000262189.6:p.Lys4385Ter
ENST00000355193.6:c.13153A>T ENSP00000347325.3:p.Lys4385Ter
ENST00000360104.7:c.5834A>T
ENST00000424877.5:c.3004A>T ENSP00000410411.1:p.Lys1002Ter
ENST00000473186.5:n.11035A>T
ENST00000558084.5:c.*10673A>T ENSP00000453752.1:n.*10673A>T
NM_170606.2:c.13153A>T NP_733751.2:p.Lys4385Ter
XM_005250025.3:c.13369A>T XP_005250082.1:p.Lys4457Ter
XM_005250026.2:c.13366A>T XP_005250083.1:p.Lys4456Ter
XM_005250027.3:c.13366A>T XP_005250084.1:p.Lys4456Ter
XM_005250028.3:c.13369A>T XP_005250085.1:p.Lys4457Ter
XM_005250031.3:c.13204A>T XP_005250088.1:p.Lys4402Ter
XM_006716077.2:c.13366A>T XP_006716140.1:p.Lys4456Ter
XM_006716078.2:c.13297A>T XP_006716141.1:p.Lys4433Ter
XM_006716079.2:c.13201A>T XP_006716142.1:p.Lys4401Ter
XM_011516450.1:c.13321A>T XP_011514752.1:p.Lys4441Ter
XM_011516451.1:c.13249A>T XP_011514753.1:p.Lys4417Ter
XM_011516452.1:c.13216A>T XP_011514754.1:p.Lys4406Ter
XM_011516453.1:c.13132A>T XP_011514755.1:p.Lys4378Ter
XM_011516454.1:c.12454A>T XP_011514756.1:p.Lys4152Ter
XM_011516455.1:c.10915A>T XP_011514757.1:p.Lys3639Ter
XM_011516456.1:c.13321A>T XP_011514758.1:p.Lys4441Ter
XM_005250025.4:c.13369A>T XP_005250082.1:p.Lys4457Ter
XM_005250026.3:c.13366A>T XP_005250083.1:p.Lys4456Ter
XM_005250027.4:c.13366A>T XP_005250084.1:p.Lys4456Ter
XM_005250028.4:c.13369A>T XP_005250085.1:p.Lys4457Ter
XM_005250031.4:c.13204A>T XP_005250088.1:p.Lys4402Ter
XM_006716077.3:c.13366A>T XP_006716140.1:p.Lys4456Ter
XM_006716078.3:c.13297A>T XP_006716141.1:p.Lys4433Ter
XM_006716079.3:c.13201A>T XP_006716142.1:p.Lys4401Ter
XM_011516450.2:c.13321A>T XP_011514752.1:p.Lys4441Ter
XM_011516451.2:c.13249A>T XP_011514753.1:p.Lys4417Ter
XM_011516452.2:c.13216A>T XP_011514754.1:p.Lys4406Ter
XM_011516453.2:c.13132A>T XP_011514755.1:p.Lys4378Ter
XM_011516454.2:c.12454A>T XP_011514756.1:p.Lys4152Ter
XM_011516456.2:c.13321A>T XP_011514758.1:p.Lys4441Ter
XM_017012480.1:c.13369A>T XP_016867969.1:p.Lys4457Ter
XM_017012481.1:c.13366A>T XP_016867970.1:p.Lys4456Ter
XM_017012482.1:c.13366A>T XP_016867971.1:p.Lys4456Ter
XM_017012483.1:c.13366A>T XP_016867972.1:p.Lys4456Ter
XM_017012484.1:c.13336A>T XP_016867973.1:p.Lys4446Ter
XM_017012485.1:c.13318A>T XP_016867974.1:p.Lys4440Ter
XM_017012486.1:c.13294A>T XP_016867975.1:p.Lys4432Ter
XM_017012487.1:c.13222A>T XP_016867976.1:p.Lys4408Ter
XM_017012488.1:c.13186A>T XP_016867977.1:p.Lys4396Ter
XM_017012489.1:c.10039A>T XP_016867978.1:p.Lys3347Ter
XM_017012490.2:c.9643A>T XP_016867979.1:p.Lys3215Ter
XM_024446852.1:c.13366A>T XP_024302620.1:p.Lys4456Ter
XM_024446853.1:c.13294A>T XP_024302621.1:p.Lys4432Ter
NM_170606.3:c.13153A>T MANE Select NP_733751.2:p.Lys4385Ter