Canonical Allele Identifier: CA370081101

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152177201G>A , CM000669.2:g.152177201G>A	GRCh38
NC_000007.13:g.151874286G>A , CM000669.1:g.151874286G>A	GRCh37
NC_000007.12:g.151505219G>A	NCBI36
NG_033948.1:g.263805C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.8252C>T MANE Select	NP_733751.2:p.Ser2751Leu
ENST00000262189.11:c.8252C>T MANE Select	ENSP00000262189.6:p.Ser2751Leu
NM_170606.2:c.8252C>T	NP_733751.2:p.Ser2751Leu
ENST00000262189.10:c.8252C>T	ENSP00000262189.6:p.Ser2751Leu
ENST00000355193.6:c.8252C>T	ENSP00000347325.3:p.Ser2751Leu
ENST00000360104.7:c.768C>T
ENST00000360104.8:c.3874C>T
ENST00000473186.5:n.5963C>T
ENST00000558084.5:c.*5772C>T	ENSP00000453752.1:n.*5772C>T
ENST00000558665.2:c.1541C>T	ENSP00000454058.2:p.Ser514Leu
ENST00000679393.1:n.1743C>T
ENST00000679560.1:c.2987C>T	ENSP00000505094.1:p.Ser996Leu
ENST00000679645.1:c.*4345C>T	ENSP00000505745.1:n.*4345C>T
ENST00000679882.1:c.8027C>T	ENSP00000506154.1:p.Ser2676Leu
ENST00000680877.1:c.2987C>T	ENSP00000505724.1:p.Ser996Leu
ENST00000680969.1:c.5648C>T	ENSP00000505951.1:p.Ser1883Leu
ENST00000681033.1:c.6950C>T	ENSP00000505058.1:p.Ser2317Leu
ENST00000682176.1:c.4971C>T
ENST00000682283.1:c.8252C>T	ENSP00000507485.1:p.Ser2751Leu
ENST00000683120.1:n.238C>T
ENST00000683159.1:c.3562C>T
ENST00000683200.1:c.5600C>T	ENSP00000508052.1:p.Ser1867Leu
ENST00000683397.1:c.2987C>T	ENSP00000507053.1:p.Ser996Leu
ENST00000683625.1:c.2987C>T	ENSP00000507769.1:p.Ser996Leu
ENST00000683670.1:c.2987C>T	ENSP00000507634.1:p.Ser996Leu
ENST00000684261.1:c.2987C>T	ENSP00000508097.1:p.Ser996Leu
ENST00000684307.1:c.2987C>T	ENSP00000507202.1:p.Ser996Leu
ENST00000684398.1:c.2987C>T	ENSP00000507254.1:p.Ser996Leu
XM_005250025.3:c.8303C>T	XP_005250082.1:p.Ser2768Leu
XM_005250025.4:c.8303C>T	XP_005250082.1:p.Ser2768Leu
XM_005250026.2:c.8300C>T	XP_005250083.1:p.Ser2767Leu
XM_005250026.3:c.8300C>T	XP_005250083.1:p.Ser2767Leu
XM_005250027.3:c.8303C>T	XP_005250084.1:p.Ser2768Leu
XM_005250027.4:c.8303C>T	XP_005250084.1:p.Ser2768Leu
XM_005250028.3:c.8303C>T	XP_005250085.1:p.Ser2768Leu
XM_005250028.4:c.8303C>T	XP_005250085.1:p.Ser2768Leu
XM_005250031.3:c.8303C>T	XP_005250088.1:p.Ser2768Leu
XM_005250031.4:c.8303C>T	XP_005250088.1:p.Ser2768Leu
XM_006716077.2:c.8303C>T	XP_006716140.1:p.Ser2768Leu
XM_006716077.3:c.8303C>T	XP_006716140.1:p.Ser2768Leu
XM_006716078.2:c.8303C>T	XP_006716141.1:p.Ser2768Leu
XM_006716078.3:c.8303C>T	XP_006716141.1:p.Ser2768Leu
XM_006716079.2:c.8303C>T	XP_006716142.1:p.Ser2768Leu
XM_006716079.3:c.8303C>T	XP_006716142.1:p.Ser2768Leu
XM_011516450.1:c.8255C>T	XP_011514752.1:p.Ser2752Leu
XM_011516450.2:c.8255C>T	XP_011514752.1:p.Ser2752Leu
XM_011516451.1:c.8183C>T	XP_011514753.1:p.Ser2728Leu
XM_011516451.2:c.8183C>T	XP_011514753.1:p.Ser2728Leu
XM_011516452.1:c.8150C>T	XP_011514754.1:p.Ser2717Leu
XM_011516452.2:c.8150C>T	XP_011514754.1:p.Ser2717Leu
XM_011516453.1:c.8303C>T	XP_011514755.1:p.Ser2768Leu
XM_011516453.2:c.8303C>T	XP_011514755.1:p.Ser2768Leu
XM_011516454.1:c.7388C>T	XP_011514756.1:p.Ser2463Leu
XM_011516454.2:c.7388C>T	XP_011514756.1:p.Ser2463Leu
XM_011516455.1:c.5849C>T	XP_011514757.1:p.Ser1950Leu
XM_011516456.1:c.8255C>T	XP_011514758.1:p.Ser2752Leu
XM_011516456.2:c.8255C>T	XP_011514758.1:p.Ser2752Leu
XM_017012480.1:c.8303C>T	XP_016867969.1:p.Ser2768Leu
XM_017012481.1:c.8300C>T	XP_016867970.1:p.Ser2767Leu
XM_017012482.1:c.8303C>T	XP_016867971.1:p.Ser2768Leu
XM_017012483.1:c.8303C>T	XP_016867972.1:p.Ser2768Leu
XM_017012484.1:c.8270C>T	XP_016867973.1:p.Ser2757Leu
XM_017012485.1:c.8252C>T	XP_016867974.1:p.Ser2751Leu
XM_017012486.1:c.8303C>T	XP_016867975.1:p.Ser2768Leu
XM_017012487.1:c.8156C>T	XP_016867976.1:p.Ser2719Leu
XM_017012488.1:c.8120C>T	XP_016867977.1:p.Ser2707Leu
XM_017012489.1:c.4973C>T	XP_016867978.1:p.Ser1658Leu
XM_017012490.2:c.4577C>T	XP_016867979.1:p.Ser1526Leu
XM_024446852.1:c.8300C>T	XP_024302620.1:p.Ser2767Leu
XM_024446853.1:c.8303C>T	XP_024302621.1:p.Ser2768Leu
XR_428183.2:n.8511C>T
XR_428183.3:n.8535C>T