Canonical Allele Identifier: CA6304238

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118501726C>T , CM000673.2:g.118501726C>T	GRCh38
NC_000011.9:g.118372441C>T , CM000673.1:g.118372441C>T	GRCh37
NC_000011.8:g.117877651C>T	NCBI36
NG_027813.1:g.70237C>T , LRG_613:g.70237C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.6374C>T MANE Select	NP_001184033.1:p.Pro2125Leu
ENST00000534358.8:c.6374C>T MANE Select	ENSP00000436786.2:p.Pro2125Leu
NM_001197104.1:c.6374C>T , LRG_613t1:c.6374C>T	NP_001184033.1:p.Pro2125Leu
NM_005933.3:c.6365C>T	NP_005924.2:p.Pro2122Leu
NM_005933.4:c.6365C>T	NP_005924.2:p.Pro2122Leu
ENST00000389506.10:c.6365C>T	ENSP00000374157.5:p.Pro2122Leu
ENST00000389506.9:c.6365C>T	ENSP00000374157.5:p.Pro2122Leu
ENST00000528278.1:n.501C>T
ENST00000528278.2:n.5716C>T
ENST00000531904.7:c.6473C>T	ENSP00000432391.3:p.Pro2158Leu
ENST00000534358.5:c.6374C>T	ENSP00000436786.1:p.Pro2125Leu
ENST00000649699.1:c.6251C>T	ENSP00000496927.1:p.Pro2084Leu
ENST00000649878.2:c.413C>T	ENSP00000497891.2:p.Pro138Leu
ENST00000685397.1:c.413C>T	ENSP00000509586.1:p.Pro138Leu
ENST00000686370.1:c.413C>T	ENSP00000509179.1:p.Pro138Leu
ENST00000689424.1:c.671C>T	ENSP00000509852.1:p.Pro224Leu
ENST00000691053.1:c.6446C>T	ENSP00000509168.1:p.Pro2149Leu
ENST00000710560.1:c.6464C>T	ENSP00000518343.1:p.Pro2155Leu
XM_006718839.2:c.3857C>T	XP_006718902.2:p.Pro1286Leu
XM_006718839.3:c.3857C>T	XP_006718902.2:p.Pro1286Leu
XM_011542829.1:c.6473C>T	XP_011541131.1:p.Pro2158Leu
XM_011542829.2:c.6473C>T	XP_011541131.1:p.Pro2158Leu
XM_011542830.1:c.6470C>T	XP_011541132.1:p.Pro2157Leu
XM_011542830.2:c.6470C>T	XP_011541132.1:p.Pro2157Leu
XM_011542831.1:c.6464C>T	XP_011541133.1:p.Pro2155Leu
XM_011542831.2:c.6464C>T	XP_011541133.1:p.Pro2155Leu
XM_011542832.1:c.4280C>T	XP_011541134.1:p.Pro1427Leu
XM_011542833.1:c.3956C>T	XP_011541135.1:p.Pro1319Leu
XM_011542833.2:c.3956C>T	XP_011541135.1:p.Pro1319Leu