Canonical Allele Identifier: CA382799585

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118499422T>C , CM000673.2:g.118499422T>C	GRCh38
NC_000011.9:g.118370137T>C , CM000673.1:g.118370137T>C	GRCh37
NC_000011.8:g.117875347T>C	NCBI36
NG_027813.1:g.67933T>C , LRG_613:g.67933T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.6079+2T>C MANE Select	NP_001184033.1:n.6079+2T>C
ENST00000534358.8:c.6079+2T>C MANE Select	ENSP00000436786.2:n.6079+2T>C
NM_001197104.1:c.6079+2T>C , LRG_613t1:c.6079+2T>C	NP_001184033.1:n.6079+2T>C
NM_005933.3:c.6070+2T>C	NP_005924.2:n.6070+2T>C
NM_005933.4:c.6070+2T>C	NP_005924.2:n.6070+2T>C
ENST00000389506.10:c.6070+2T>C	ENSP00000374157.5:n.6070+2T>C
ENST00000389506.9:c.6070+2T>C	ENSP00000374157.5:n.6070+2T>C
ENST00000528278.2:n.3936T>C
ENST00000531904.7:c.6178+2T>C	ENSP00000432391.3:n.6178+2T>C
ENST00000534358.5:c.6079+2T>C	ENSP00000436786.1:n.6079+2T>C
ENST00000649699.1:c.5956+2T>C	ENSP00000496927.1:n.5956+2T>C
ENST00000649878.2:c.118+2T>C	ENSP00000497891.2:n.118+2T>C
ENST00000685397.1:c.118+2T>C	ENSP00000509586.1:n.118+2T>C
ENST00000686370.1:c.118+2T>C	ENSP00000509179.1:n.118+2T>C
ENST00000689424.1:c.376+2T>C	ENSP00000509852.1:n.376+2T>C
ENST00000691053.1:c.6151+2T>C	ENSP00000509168.1:n.6151+2T>C
ENST00000710560.1:c.6169+2T>C	ENSP00000518343.1:n.6169+2T>C
XM_006718839.2:c.3562+2T>C	XP_006718902.2:n.3562+2T>C
XM_006718839.3:c.3562+2T>C	XP_006718902.2:n.3562+2T>C
XM_011542829.1:c.6178+2T>C	XP_011541131.1:n.6178+2T>C
XM_011542829.2:c.6178+2T>C	XP_011541131.1:n.6178+2T>C
XM_011542830.1:c.6175+2T>C	XP_011541132.1:n.6175+2T>C
XM_011542830.2:c.6175+2T>C	XP_011541132.1:n.6175+2T>C
XM_011542831.1:c.6169+2T>C	XP_011541133.1:n.6169+2T>C
XM_011542831.2:c.6169+2T>C	XP_011541133.1:n.6169+2T>C
XM_011542832.1:c.3985+2T>C	XP_011541134.1:n.3985+2T>C
XM_011542833.1:c.3661+2T>C	XP_011541135.1:n.3661+2T>C
XM_011542833.2:c.3661+2T>C	XP_011541135.1:n.3661+2T>C