Canonical Allele Identifier: CA382804849
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1433310235

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503143C>G , CM000673.2:g.118503143C>G GRCh38
NC_000011.9:g.118373858C>G , CM000673.1:g.118373858C>G GRCh37
NC_000011.8:g.117879068C>G NCBI36
NG_027813.1:g.71654C>G , LRG_613:g.71654C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7350C>G ENSP00000432391.3:p.Ile2450Met
ENST00000710560.1:c.7341C>G ENSP00000518343.1:p.Ile2447Met
ENST00000649878.2:c.1290C>G ENSP00000497891.2:p.Ile430Met
ENST00000685397.1:c.1290C>G ENSP00000509586.1:p.Ile430Met
ENST00000686370.1:c.1290C>G ENSP00000509179.1:p.Ile430Met
ENST00000689424.1:c.1548C>G ENSP00000509852.1:p.Ile516Met
ENST00000691053.1:c.7323C>G ENSP00000509168.1:p.Ile2441Met
ENST00000389506.10:c.7242C>G ENSP00000374157.5:p.Ile2414Met
ENST00000528278.2:n.6593C>G
ENST00000534358.8:c.7251C>G MANE Select ENSP00000436786.2:p.Ile2417Met
ENST00000649699.1:c.7128C>G ENSP00000496927.1:p.Ile2376Met
ENST00000389506.9:c.7242C>G ENSP00000374157.5:p.Ile2414Met
ENST00000528278.1:n.1378C>G
ENST00000534358.5:c.7251C>G ENSP00000436786.1:p.Ile2417Met
NM_001197104.1:c.7251C>G , LRG_613t1:c.7251C>G NP_001184033.1:p.Ile2417Met
NM_005933.3:c.7242C>G NP_005924.2:p.Ile2414Met
XM_006718839.2:c.4734C>G XP_006718902.2:p.Ile1578Met
XM_011542829.1:c.7350C>G XP_011541131.1:p.Ile2450Met
XM_011542830.1:c.7347C>G XP_011541132.1:p.Ile2449Met
XM_011542831.1:c.7341C>G XP_011541133.1:p.Ile2447Met
XM_011542832.1:c.5157C>G XP_011541134.1:p.Ile1719Met
XM_011542833.1:c.4833C>G XP_011541135.1:p.Ile1611Met
XM_006718839.3:c.4734C>G XP_006718902.2:p.Ile1578Met
XM_011542829.2:c.7350C>G XP_011541131.1:p.Ile2450Met
XM_011542830.2:c.7347C>G XP_011541132.1:p.Ile2449Met
XM_011542831.2:c.7341C>G XP_011541133.1:p.Ile2447Met
XM_011542833.2:c.4833C>G XP_011541135.1:p.Ile1611Met
NM_001197104.2:c.7251C>G MANE Select NP_001184033.1:p.Ile2417Met
NM_005933.4:c.7242C>G NP_005924.2:p.Ile2414Met