Canonical Allele Identifier: CA382828769
Community Standard Title: NM_001197104.2(KMT2A):c.4013-2A>G
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118482420A>G , CM000673.2:g.118482420A>G GRCh38
NC_000011.9:g.118353135A>G , CM000673.1:g.118353135A>G GRCh37
NC_000011.8:g.117858345A>G NCBI36
NG_027813.1:g.50931A>G , LRG_613:g.50931A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.4013-2A>G MANE Select NP_001184033.1:n.4013-2A>G
ENST00000534358.8:c.4013-2A>G MANE Select ENSP00000436786.2:n.4013-2A>G
NM_001197104.1:c.4013-2A>G , LRG_613t1:c.4013-2A>G NP_001184033.1:n.4013-2A>G
NM_005933.3:c.4013-2A>G NP_005924.2:n.4013-2A>G
NM_005933.4:c.4013-2A>G NP_005924.2:n.4013-2A>G
ENST00000389506.10:c.4013-2A>G ENSP00000374157.5:n.4013-2A>G
ENST00000389506.9:c.4013-2A>G ENSP00000374157.5:n.4013-2A>G
ENST00000392873.3:c.263-2A>G ENSP00000376612.3:n.263-2A>G
ENST00000392873.4:n.106-2A>G
ENST00000420751.2:n.105+328A>G
ENST00000420751.3:n.105+328A>G
ENST00000531904.6:c.4112-2A>G ENSP00000432391.2:n.4112-2A>G
ENST00000531904.7:c.4112-2A>G ENSP00000432391.3:n.4112-2A>G
ENST00000534358.5:c.4013-2A>G ENSP00000436786.1:n.4013-2A>G
ENST00000648261.1:c.*320A>G ENSP00000498126.1:n.*320A>G
ENST00000649699.1:c.4013-2A>G ENSP00000496927.1:n.4013-2A>G
ENST00000685719.1:c.993+328A>G
ENST00000691053.1:c.4013-2A>G ENSP00000509168.1:n.4013-2A>G
ENST00000710560.1:c.4112-2A>G ENSP00000518343.1:n.4112-2A>G
XM_006718839.2:c.1496-2A>G XP_006718902.2:n.1496-2A>G
XM_006718839.3:c.1496-2A>G XP_006718902.2:n.1496-2A>G
XM_011542829.1:c.4112-2A>G XP_011541131.1:n.4112-2A>G
XM_011542829.2:c.4112-2A>G XP_011541131.1:n.4112-2A>G
XM_011542830.1:c.4112-2A>G XP_011541132.1:n.4112-2A>G
XM_011542830.2:c.4112-2A>G XP_011541132.1:n.4112-2A>G
XM_011542831.1:c.4112-2A>G XP_011541133.1:n.4112-2A>G
XM_011542831.2:c.4112-2A>G XP_011541133.1:n.4112-2A>G
XM_011542832.1:c.1919-2A>G XP_011541134.1:n.1919-2A>G
XM_011542833.1:c.1595-2A>G XP_011541135.1:n.1595-2A>G
XM_011542833.2:c.1595-2A>G XP_011541135.1:n.1595-2A>G