Canonical Allele Identifier: CA382813860

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118504347T>C , CM000673.2:g.118504347T>C	GRCh38
NC_000011.9:g.118375062T>C , CM000673.1:g.118375062T>C	GRCh37
NC_000011.8:g.117880272T>C	NCBI36
NG_027813.1:g.72858T>C , LRG_613:g.72858T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.8455T>C MANE Select	NP_001184033.1:p.Ser2819Pro
ENST00000534358.8:c.8455T>C MANE Select	ENSP00000436786.2:p.Ser2819Pro
NM_001197104.1:c.8455T>C , LRG_613t1:c.8455T>C	NP_001184033.1:p.Ser2819Pro
NM_005933.3:c.8446T>C	NP_005924.2:p.Ser2816Pro
NM_005933.4:c.8446T>C	NP_005924.2:p.Ser2816Pro
ENST00000389506.10:c.8446T>C	ENSP00000374157.5:p.Ser2816Pro
ENST00000389506.9:c.8446T>C	ENSP00000374157.5:p.Ser2816Pro
ENST00000528278.2:n.7797T>C
ENST00000531904.7:c.8554T>C	ENSP00000432391.3:p.Ser2852Pro
ENST00000534358.5:c.8455T>C	ENSP00000436786.1:p.Ser2819Pro
ENST00000649699.1:c.8332T>C	ENSP00000496927.1:p.Ser2778Pro
ENST00000649878.2:c.2494T>C	ENSP00000497891.2:p.Ser832Pro
ENST00000685397.1:c.2494T>C	ENSP00000509586.1:p.Ser832Pro
ENST00000686370.1:c.2494T>C	ENSP00000509179.1:p.Ser832Pro
ENST00000689424.1:c.2752T>C	ENSP00000509852.1:p.Ser918Pro
ENST00000691053.1:c.8527T>C	ENSP00000509168.1:p.Ser2843Pro
ENST00000710560.1:c.8545T>C	ENSP00000518343.1:p.Ser2849Pro
XM_006718839.2:c.5938T>C	XP_006718902.2:p.Ser1980Pro
XM_006718839.3:c.5938T>C	XP_006718902.2:p.Ser1980Pro
XM_011542829.1:c.8554T>C	XP_011541131.1:p.Ser2852Pro
XM_011542829.2:c.8554T>C	XP_011541131.1:p.Ser2852Pro
XM_011542830.1:c.8551T>C	XP_011541132.1:p.Ser2851Pro
XM_011542830.2:c.8551T>C	XP_011541132.1:p.Ser2851Pro
XM_011542831.1:c.8545T>C	XP_011541133.1:p.Ser2849Pro
XM_011542831.2:c.8545T>C	XP_011541133.1:p.Ser2849Pro
XM_011542832.1:c.6361T>C	XP_011541134.1:p.Ser2121Pro
XM_011542833.1:c.6037T>C	XP_011541135.1:p.Ser2013Pro
XM_011542833.2:c.6037T>C	XP_011541135.1:p.Ser2013Pro