Canonical Allele Identifier: CA229527109
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1784246

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118480197A>C , CM000673.2:g.118480197A>C GRCh38
NC_000011.9:g.118350912A>C , CM000673.1:g.118350912A>C GRCh37
NC_000011.8:g.117856122A>C NCBI36
NG_027813.1:g.48708A>C , LRG_613:g.48708A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.3692A>C ENSP00000432391.3:p.Gln1231Pro
ENST00000710560.1:c.3692A>C ENSP00000518343.1:p.Gln1231Pro
ENST00000527869.7:c.1175A>C ENSP00000432652.3:p.Gln392Pro
ENST00000533790.3:c.1076A>C ENSP00000436700.3:p.Gln359Pro
ENST00000649690.2:c.1400A>C ENSP00000497372.2:p.Gln467Pro
ENST00000685719.1:c.574A>C
ENST00000691053.1:c.3593A>C ENSP00000509168.1:p.Gln1198Pro
ENST00000389506.10:c.3593A>C ENSP00000374157.5:p.Gln1198Pro
ENST00000533790.2:c.845A>C ENSP00000436700.2:p.Gln282Pro
ENST00000534358.8:c.3593A>C MANE Select ENSP00000436786.2:p.Gln1198Pro
ENST00000648261.1:c.2363A>C ENSP00000498126.1:p.Gln788Pro
ENST00000649699.1:c.3593A>C ENSP00000496927.1:p.Gln1198Pro
ENST00000389506.9:c.3593A>C ENSP00000374157.5:p.Gln1198Pro
ENST00000531904.6:c.3692A>C ENSP00000432391.2:p.Gln1231Pro
ENST00000534358.5:c.3593A>C ENSP00000436786.1:p.Gln1198Pro
NM_001197104.1:c.3593A>C , LRG_613t1:c.3593A>C NP_001184033.1:p.Gln1198Pro
NM_005933.3:c.3593A>C NP_005924.2:p.Gln1198Pro
XM_006718839.2:c.1076A>C XP_006718902.2:p.Gln359Pro
XM_011542829.1:c.3692A>C XP_011541131.1:p.Gln1231Pro
XM_011542830.1:c.3692A>C XP_011541132.1:p.Gln1231Pro
XM_011542831.1:c.3692A>C XP_011541133.1:p.Gln1231Pro
XM_011542832.1:c.1499A>C XP_011541134.1:p.Gln500Pro
XM_011542833.1:c.1175A>C XP_011541135.1:p.Gln392Pro
XM_006718839.3:c.1076A>C XP_006718902.2:p.Gln359Pro
XM_011542829.2:c.3692A>C XP_011541131.1:p.Gln1231Pro
XM_011542830.2:c.3692A>C XP_011541132.1:p.Gln1231Pro
XM_011542831.2:c.3692A>C XP_011541133.1:p.Gln1231Pro
XM_011542833.2:c.1175A>C XP_011541135.1:p.Gln392Pro
NM_001197104.2:c.3593A>C MANE Select NP_001184033.1:p.Gln1198Pro
NM_005933.4:c.3593A>C NP_005924.2:p.Gln1198Pro