Canonical Allele Identifier: CA382807923
Community Standard Title: NM_001197104.2(KMT2A):c.795G>T (p.Gln265His)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118471954G>T , CM000673.2:g.118471954G>T GRCh38
NC_000011.9:g.118342669G>T , CM000673.1:g.118342669G>T GRCh37
NC_000011.8:g.117847879G>T NCBI36
NG_027813.1:g.40465G>T , LRG_613:g.40465G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.795G>T MANE Select NP_001184033.1:p.Gln265His
ENST00000534358.8:c.795G>T MANE Select ENSP00000436786.2:p.Gln265His
NM_001197104.1:c.795G>T , LRG_613t1:c.795G>T NP_001184033.1:p.Gln265His
NM_005933.3:c.795G>T NP_005924.2:p.Gln265His
NM_005933.4:c.795G>T NP_005924.2:p.Gln265His
ENST00000389506.10:c.795G>T ENSP00000374157.5:p.Gln265His
ENST00000389506.9:c.795G>T ENSP00000374157.5:p.Gln265His
ENST00000527869.6:c.353-2225G>T ENSP00000432652.2:n.353-2225G>T
ENST00000527869.7:c.602-2225G>T ENSP00000432652.3:n.602-2225G>T
ENST00000531904.6:c.894G>T ENSP00000432391.2:p.Gln298His
ENST00000531904.7:c.894G>T ENSP00000432391.3:p.Gln298His
ENST00000533790.1:c.254-2225G>T ENSP00000436700.1:n.254-2225G>T
ENST00000533790.2:c.272-2225G>T ENSP00000436700.2:n.272-2225G>T
ENST00000533790.3:c.503-2225G>T ENSP00000436700.3:n.503-2225G>T
ENST00000534358.5:c.795G>T ENSP00000436786.1:p.Gln265His
ENST00000648261.1:c.-436G>T ENSP00000498126.1:n.-436G>T
ENST00000649690.1:c.381G>T ENSP00000497372.1:p.Gln127His
ENST00000649690.2:c.795G>T ENSP00000497372.2:p.Gln265His
ENST00000649699.1:c.795G>T ENSP00000496927.1:p.Gln265His
ENST00000691053.1:c.795G>T ENSP00000509168.1:p.Gln265His
ENST00000710560.1:c.894G>T ENSP00000518343.1:p.Gln298His
XM_006718839.2:c.503-2225G>T XP_006718902.2:n.503-2225G>T
XM_006718839.3:c.503-2225G>T XP_006718902.2:n.503-2225G>T
XM_011542829.1:c.894G>T XP_011541131.1:p.Gln298His
XM_011542829.2:c.894G>T XP_011541131.1:p.Gln298His
XM_011542830.1:c.894G>T XP_011541132.1:p.Gln298His
XM_011542830.2:c.894G>T XP_011541132.1:p.Gln298His
XM_011542831.1:c.894G>T XP_011541133.1:p.Gln298His
XM_011542831.2:c.894G>T XP_011541133.1:p.Gln298His
XM_011542832.1:c.894G>T XP_011541134.1:p.Gln298His
XM_011542833.1:c.602-2225G>T XP_011541135.1:n.602-2225G>T
XM_011542833.2:c.602-2225G>T XP_011541135.1:n.602-2225G>T