Canonical Allele Identifier: CA382816313
Community Standard Title: NM_001197104.2(KMT2A):c.2584C>T (p.Arg862Ter)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118473743C>T , CM000673.2:g.118473743C>T GRCh38
NC_000011.9:g.118344458C>T , CM000673.1:g.118344458C>T GRCh37
NC_000011.8:g.117849668C>T NCBI36
NG_027813.1:g.42254C>T , LRG_613:g.42254C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.2584C>T MANE Select NP_001184033.1:p.Arg862Ter
ENST00000534358.8:c.2584C>T MANE Select ENSP00000436786.2:p.Arg862Ter
NM_001197104.1:c.2584C>T , LRG_613t1:c.2584C>T NP_001184033.1:p.Arg862Ter
NM_005933.3:c.2584C>T NP_005924.2:p.Arg862Ter
NM_005933.4:c.2584C>T NP_005924.2:p.Arg862Ter
ENST00000389506.10:c.2584C>T ENSP00000374157.5:p.Arg862Ter
ENST00000389506.9:c.2584C>T ENSP00000374157.5:p.Arg862Ter
ENST00000527869.6:c.353-436C>T ENSP00000432652.2:n.353-436C>T
ENST00000527869.7:c.602-436C>T ENSP00000432652.3:n.602-436C>T
ENST00000531904.6:c.2683C>T ENSP00000432391.2:p.Arg895Ter
ENST00000531904.7:c.2683C>T ENSP00000432391.3:p.Arg895Ter
ENST00000533790.1:c.254-436C>T ENSP00000436700.1:n.254-436C>T
ENST00000533790.2:c.272-436C>T ENSP00000436700.2:n.272-436C>T
ENST00000533790.3:c.503-436C>T ENSP00000436700.3:n.503-436C>T
ENST00000534358.5:c.2584C>T ENSP00000436786.1:p.Arg862Ter
ENST00000648261.1:c.1354C>T ENSP00000498126.1:p.Arg452Ter
ENST00000649690.1:c.413-436C>T ENSP00000497372.1:n.413-436C>T
ENST00000649690.2:c.827-436C>T ENSP00000497372.2:n.827-436C>T
ENST00000649699.1:c.2584C>T ENSP00000496927.1:p.Arg862Ter
ENST00000691053.1:c.2584C>T ENSP00000509168.1:p.Arg862Ter
ENST00000710560.1:c.2683C>T ENSP00000518343.1:p.Arg895Ter
XM_006718839.2:c.503-436C>T XP_006718902.2:n.503-436C>T
XM_006718839.3:c.503-436C>T XP_006718902.2:n.503-436C>T
XM_011542829.1:c.2683C>T XP_011541131.1:p.Arg895Ter
XM_011542829.2:c.2683C>T XP_011541131.1:p.Arg895Ter
XM_011542830.1:c.2683C>T XP_011541132.1:p.Arg895Ter
XM_011542830.2:c.2683C>T XP_011541132.1:p.Arg895Ter
XM_011542831.1:c.2683C>T XP_011541133.1:p.Arg895Ter
XM_011542831.2:c.2683C>T XP_011541133.1:p.Arg895Ter
XM_011542832.1:c.926-436C>T XP_011541134.1:n.926-436C>T
XM_011542833.1:c.602-436C>T XP_011541135.1:n.602-436C>T
XM_011542833.2:c.602-436C>T XP_011541135.1:n.602-436C>T