Canonical Allele Identifier: CA172397

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503723G>T , CM000673.2:g.118503723G>T	GRCh38
NC_000011.9:g.118374438G>T , CM000673.1:g.118374438G>T	GRCh37
NC_000011.8:g.117879648G>T	NCBI36
NG_027813.1:g.72234G>T , LRG_613:g.72234G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.7831G>T MANE Select	NP_001184033.1:p.Glu2611Ter
ENST00000534358.8:c.7831G>T MANE Select	ENSP00000436786.2:p.Glu2611Ter
NM_001197104.1:c.7831G>T , LRG_613t1:c.7831G>T	NP_001184033.1:p.Glu2611Ter
NM_005933.3:c.7822G>T	NP_005924.2:p.Glu2608Ter
NM_005933.4:c.7822G>T	NP_005924.2:p.Glu2608Ter
ENST00000389506.10:c.7822G>T	ENSP00000374157.5:p.Glu2608Ter
ENST00000389506.9:c.7822G>T	ENSP00000374157.5:p.Glu2608Ter
ENST00000528278.2:n.7173G>T
ENST00000531904.7:c.7930G>T	ENSP00000432391.3:p.Glu2644Ter
ENST00000534358.5:c.7831G>T	ENSP00000436786.1:p.Glu2611Ter
ENST00000649699.1:c.7708G>T	ENSP00000496927.1:p.Glu2570Ter
ENST00000649878.2:c.1870G>T	ENSP00000497891.2:p.Glu624Ter
ENST00000685397.1:c.1870G>T	ENSP00000509586.1:p.Glu624Ter
ENST00000686370.1:c.1870G>T	ENSP00000509179.1:p.Glu624Ter
ENST00000689424.1:c.2128G>T	ENSP00000509852.1:p.Glu710Ter
ENST00000691053.1:c.7903G>T	ENSP00000509168.1:p.Glu2635Ter
ENST00000710560.1:c.7921G>T	ENSP00000518343.1:p.Glu2641Ter
XM_006718839.2:c.5314G>T	XP_006718902.2:p.Glu1772Ter
XM_006718839.3:c.5314G>T	XP_006718902.2:p.Glu1772Ter
XM_011542829.1:c.7930G>T	XP_011541131.1:p.Glu2644Ter
XM_011542829.2:c.7930G>T	XP_011541131.1:p.Glu2644Ter
XM_011542830.1:c.7927G>T	XP_011541132.1:p.Glu2643Ter
XM_011542830.2:c.7927G>T	XP_011541132.1:p.Glu2643Ter
XM_011542831.1:c.7921G>T	XP_011541133.1:p.Glu2641Ter
XM_011542831.2:c.7921G>T	XP_011541133.1:p.Glu2641Ter
XM_011542832.1:c.5737G>T	XP_011541134.1:p.Glu1913Ter
XM_011542833.1:c.5413G>T	XP_011541135.1:p.Glu1805Ter
XM_011542833.2:c.5413G>T	XP_011541135.1:p.Glu1805Ter