Canonical Allele Identifier: CA370084841
Community Standard Title: NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152177628G>A , CM000669.2:g.152177628G>A GRCh38
NC_000007.13:g.151874713G>A , CM000669.1:g.151874713G>A GRCh37
NC_000007.12:g.151505646G>A NCBI36
NG_033948.1:g.263378C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.7825C>T MANE Select NP_733751.2:p.Arg2609Ter
ENST00000262189.11:c.7825C>T MANE Select ENSP00000262189.6:p.Arg2609Ter
NM_170606.2:c.7825C>T NP_733751.2:p.Arg2609Ter
ENST00000262189.10:c.7825C>T ENSP00000262189.6:p.Arg2609Ter
ENST00000355193.6:c.7825C>T ENSP00000347325.3:p.Arg2609Ter
ENST00000360104.7:c.341C>T
ENST00000360104.8:c.3447C>T
ENST00000473186.5:n.5536C>T
ENST00000558084.5:c.*5345C>T ENSP00000453752.1:n.*5345C>T
ENST00000558665.2:c.1114C>T ENSP00000454058.2:p.Arg372Ter
ENST00000679393.1:n.1316C>T
ENST00000679560.1:c.2560C>T ENSP00000505094.1:p.Arg854Ter
ENST00000679645.1:c.*3918C>T ENSP00000505745.1:n.*3918C>T
ENST00000679882.1:c.7600C>T ENSP00000506154.1:p.Arg2534Ter
ENST00000680877.1:c.2560C>T ENSP00000505724.1:p.Arg854Ter
ENST00000680969.1:c.5221C>T ENSP00000505951.1:p.Arg1741Ter
ENST00000681033.1:c.6523C>T ENSP00000505058.1:p.Arg2175Ter
ENST00000682176.1:c.4544C>T
ENST00000682283.1:c.7825C>T ENSP00000507485.1:p.Arg2609Ter
ENST00000683159.1:c.3135C>T
ENST00000683200.1:c.5173C>T ENSP00000508052.1:p.Arg1725Ter
ENST00000683397.1:c.2560C>T ENSP00000507053.1:p.Arg854Ter
ENST00000683625.1:c.2560C>T ENSP00000507769.1:p.Arg854Ter
ENST00000683670.1:c.2560C>T ENSP00000507634.1:p.Arg854Ter
ENST00000684261.1:c.2560C>T ENSP00000508097.1:p.Arg854Ter
ENST00000684307.1:c.2560C>T ENSP00000507202.1:p.Arg854Ter
ENST00000684398.1:c.2560C>T ENSP00000507254.1:p.Arg854Ter
XM_005250025.3:c.7876C>T XP_005250082.1:p.Arg2626Ter
XM_005250025.4:c.7876C>T XP_005250082.1:p.Arg2626Ter
XM_005250026.2:c.7873C>T XP_005250083.1:p.Arg2625Ter
XM_005250026.3:c.7873C>T XP_005250083.1:p.Arg2625Ter
XM_005250027.3:c.7876C>T XP_005250084.1:p.Arg2626Ter
XM_005250027.4:c.7876C>T XP_005250084.1:p.Arg2626Ter
XM_005250028.3:c.7876C>T XP_005250085.1:p.Arg2626Ter
XM_005250028.4:c.7876C>T XP_005250085.1:p.Arg2626Ter
XM_005250031.3:c.7876C>T XP_005250088.1:p.Arg2626Ter
XM_005250031.4:c.7876C>T XP_005250088.1:p.Arg2626Ter
XM_006716077.2:c.7876C>T XP_006716140.1:p.Arg2626Ter
XM_006716077.3:c.7876C>T XP_006716140.1:p.Arg2626Ter
XM_006716078.2:c.7876C>T XP_006716141.1:p.Arg2626Ter
XM_006716078.3:c.7876C>T XP_006716141.1:p.Arg2626Ter
XM_006716079.2:c.7876C>T XP_006716142.1:p.Arg2626Ter
XM_006716079.3:c.7876C>T XP_006716142.1:p.Arg2626Ter
XM_011516450.1:c.7828C>T XP_011514752.1:p.Arg2610Ter
XM_011516450.2:c.7828C>T XP_011514752.1:p.Arg2610Ter
XM_011516451.1:c.7756C>T XP_011514753.1:p.Arg2586Ter
XM_011516451.2:c.7756C>T XP_011514753.1:p.Arg2586Ter
XM_011516452.1:c.7723C>T XP_011514754.1:p.Arg2575Ter
XM_011516452.2:c.7723C>T XP_011514754.1:p.Arg2575Ter
XM_011516453.1:c.7876C>T XP_011514755.1:p.Arg2626Ter
XM_011516453.2:c.7876C>T XP_011514755.1:p.Arg2626Ter
XM_011516454.1:c.6961C>T XP_011514756.1:p.Arg2321Ter
XM_011516454.2:c.6961C>T XP_011514756.1:p.Arg2321Ter
XM_011516455.1:c.5422C>T XP_011514757.1:p.Arg1808Ter
XM_011516456.1:c.7828C>T XP_011514758.1:p.Arg2610Ter
XM_011516456.2:c.7828C>T XP_011514758.1:p.Arg2610Ter
XM_017012480.1:c.7876C>T XP_016867969.1:p.Arg2626Ter
XM_017012481.1:c.7873C>T XP_016867970.1:p.Arg2625Ter
XM_017012482.1:c.7876C>T XP_016867971.1:p.Arg2626Ter
XM_017012483.1:c.7876C>T XP_016867972.1:p.Arg2626Ter
XM_017012484.1:c.7843C>T XP_016867973.1:p.Arg2615Ter
XM_017012485.1:c.7825C>T XP_016867974.1:p.Arg2609Ter
XM_017012486.1:c.7876C>T XP_016867975.1:p.Arg2626Ter
XM_017012487.1:c.7729C>T XP_016867976.1:p.Arg2577Ter
XM_017012488.1:c.7693C>T XP_016867977.1:p.Arg2565Ter
XM_017012489.1:c.4546C>T XP_016867978.1:p.Arg1516Ter
XM_017012490.2:c.4150C>T XP_016867979.1:p.Arg1384Ter
XM_024446852.1:c.7873C>T XP_024302620.1:p.Arg2625Ter
XM_024446853.1:c.7876C>T XP_024302621.1:p.Arg2626Ter
XR_428183.2:n.8084C>T
XR_428183.3:n.8108C>T