Canonical Allele Identifier: CA169245016
Community Standard Title: NM_170606.3(KMT2C):c.2573G>T (p.Trp858Leu)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152238786C>A , CM000669.2:g.152238786C>A GRCh38
NC_000007.13:g.151935871C>A , CM000669.1:g.151935871C>A GRCh37
NC_000007.12:g.151566804C>A NCBI36
NG_033948.1:g.202220G>T

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.2573G>T MANE Select NP_733751.2:p.Trp858Leu
ENST00000262189.11:c.2573G>T MANE Select ENSP00000262189.6:p.Trp858Leu
NM_170606.2:c.2573G>T NP_733751.2:p.Trp858Leu
ENST00000262189.10:c.2573G>T ENSP00000262189.6:p.Trp858Leu
ENST00000355193.6:c.2573G>T ENSP00000347325.3:p.Trp858Leu
ENST00000418673.1:c.119-2853G>T
ENST00000473186.5:n.284G>T
ENST00000489110.2:n.83G>T
ENST00000558084.5:c.*93G>T ENSP00000453752.1:n.*93G>T
ENST00000679645.1:c.2573G>T ENSP00000505745.1:p.Trp858Leu
ENST00000679882.1:c.2533-2853G>T ENSP00000506154.1:n.2533-2853G>T
ENST00000680479.1:n.318G>T
ENST00000681033.1:c.1274G>T ENSP00000505058.1:p.Trp425Leu
ENST00000682283.1:c.2573G>T ENSP00000507485.1:p.Trp858Leu
ENST00000683490.1:c.2573G>T ENSP00000507385.1:p.Trp858Leu
ENST00000684550.1:c.2573G>T ENSP00000507135.1:p.Trp858Leu
XM_005250025.3:c.2576G>T XP_005250082.1:p.Trp859Leu
XM_005250025.4:c.2576G>T XP_005250082.1:p.Trp859Leu
XM_005250026.2:c.2573G>T XP_005250083.1:p.Trp858Leu
XM_005250026.3:c.2573G>T XP_005250083.1:p.Trp858Leu
XM_005250027.3:c.2576G>T XP_005250084.1:p.Trp859Leu
XM_005250027.4:c.2576G>T XP_005250084.1:p.Trp859Leu
XM_005250028.3:c.2576G>T XP_005250085.1:p.Trp859Leu
XM_005250028.4:c.2576G>T XP_005250085.1:p.Trp859Leu
XM_005250031.3:c.2576G>T XP_005250088.1:p.Trp859Leu
XM_005250031.4:c.2576G>T XP_005250088.1:p.Trp859Leu
XM_006716077.2:c.2576G>T XP_006716140.1:p.Trp859Leu
XM_006716077.3:c.2576G>T XP_006716140.1:p.Trp859Leu
XM_006716078.2:c.2576G>T XP_006716141.1:p.Trp859Leu
XM_006716078.3:c.2576G>T XP_006716141.1:p.Trp859Leu
XM_006716079.2:c.2576G>T XP_006716142.1:p.Trp859Leu
XM_006716079.3:c.2576G>T XP_006716142.1:p.Trp859Leu
XM_011516450.1:c.2576G>T XP_011514752.1:p.Trp859Leu
XM_011516450.2:c.2576G>T XP_011514752.1:p.Trp859Leu
XM_011516451.1:c.2536-2853G>T XP_011514753.1:n.2536-2853G>T
XM_011516451.2:c.2536-2853G>T XP_011514753.1:n.2536-2853G>T
XM_011516452.1:c.2576G>T XP_011514754.1:p.Trp859Leu
XM_011516452.2:c.2576G>T XP_011514754.1:p.Trp859Leu
XM_011516453.1:c.2576G>T XP_011514755.1:p.Trp859Leu
XM_011516453.2:c.2576G>T XP_011514755.1:p.Trp859Leu
XM_011516454.1:c.1661G>T XP_011514756.1:p.Trp554Leu
XM_011516454.2:c.1661G>T XP_011514756.1:p.Trp554Leu
XM_011516456.1:c.2576G>T XP_011514758.1:p.Trp859Leu
XM_011516456.2:c.2576G>T XP_011514758.1:p.Trp859Leu
XM_017012480.1:c.2576G>T XP_016867969.1:p.Trp859Leu
XM_017012481.1:c.2573G>T XP_016867970.1:p.Trp858Leu
XM_017012482.1:c.2576G>T XP_016867971.1:p.Trp859Leu
XM_017012483.1:c.2576G>T XP_016867972.1:p.Trp859Leu
XM_017012484.1:c.2543G>T XP_016867973.1:p.Trp848Leu
XM_017012485.1:c.2573G>T XP_016867974.1:p.Trp858Leu
XM_017012486.1:c.2576G>T XP_016867975.1:p.Trp859Leu
XM_017012487.1:c.2429G>T XP_016867976.1:p.Trp810Leu
XM_017012488.1:c.2576G>T XP_016867977.1:p.Trp859Leu
XM_024446852.1:c.2576G>T XP_024302620.1:p.Trp859Leu
XM_024446853.1:c.2576G>T XP_024302621.1:p.Trp859Leu
XR_428183.2:n.2784G>T
XR_428183.3:n.2808G>T