Canonical Allele Identifier: CA172400

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503987C>T , CM000673.2:g.118503987C>T	GRCh38
NC_000011.9:g.118374702C>T , CM000673.1:g.118374702C>T	GRCh37
NC_000011.8:g.117879912C>T	NCBI36
NG_027813.1:g.72498C>T , LRG_613:g.72498C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.8095C>T MANE Select	NP_001184033.1:p.Arg2699Ter
ENST00000534358.8:c.8095C>T MANE Select	ENSP00000436786.2:p.Arg2699Ter
NM_001197104.1:c.8095C>T , LRG_613t1:c.8095C>T	NP_001184033.1:p.Arg2699Ter
NM_005933.3:c.8086C>T	NP_005924.2:p.Arg2696Ter
NM_005933.4:c.8086C>T	NP_005924.2:p.Arg2696Ter
ENST00000389506.10:c.8086C>T	ENSP00000374157.5:p.Arg2696Ter
ENST00000389506.9:c.8086C>T	ENSP00000374157.5:p.Arg2696Ter
ENST00000528278.2:n.7437C>T
ENST00000531904.7:c.8194C>T	ENSP00000432391.3:p.Arg2732Ter
ENST00000534358.5:c.8095C>T	ENSP00000436786.1:p.Arg2699Ter
ENST00000649699.1:c.7972C>T	ENSP00000496927.1:p.Arg2658Ter
ENST00000649878.2:c.2134C>T	ENSP00000497891.2:p.Arg712Ter
ENST00000685397.1:c.2134C>T	ENSP00000509586.1:p.Arg712Ter
ENST00000686370.1:c.2134C>T	ENSP00000509179.1:p.Arg712Ter
ENST00000689424.1:c.2392C>T	ENSP00000509852.1:p.Arg798Ter
ENST00000691053.1:c.8167C>T	ENSP00000509168.1:p.Arg2723Ter
ENST00000710560.1:c.8185C>T	ENSP00000518343.1:p.Arg2729Ter
XM_006718839.2:c.5578C>T	XP_006718902.2:p.Arg1860Ter
XM_006718839.3:c.5578C>T	XP_006718902.2:p.Arg1860Ter
XM_011542829.1:c.8194C>T	XP_011541131.1:p.Arg2732Ter
XM_011542829.2:c.8194C>T	XP_011541131.1:p.Arg2732Ter
XM_011542830.1:c.8191C>T	XP_011541132.1:p.Arg2731Ter
XM_011542830.2:c.8191C>T	XP_011541132.1:p.Arg2731Ter
XM_011542831.1:c.8185C>T	XP_011541133.1:p.Arg2729Ter
XM_011542831.2:c.8185C>T	XP_011541133.1:p.Arg2729Ter
XM_011542832.1:c.6001C>T	XP_011541134.1:p.Arg2001Ter
XM_011542833.1:c.5677C>T	XP_011541135.1:p.Arg1893Ter
XM_011542833.2:c.5677C>T	XP_011541135.1:p.Arg1893Ter