Canonical Allele Identifier: CA477360023
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1433310235
MyVariant Identifiers: chr11:g.118373858C>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7350C>A ENSP00000432391.3:p.Ile2450=
ENST00000710560.1:c.7341C>A ENSP00000518343.1:p.Ile2447=
ENST00000649878.2:c.1290C>A ENSP00000497891.2:p.Ile430=
ENST00000685397.1:c.1290C>A ENSP00000509586.1:p.Ile430=
ENST00000686370.1:c.1290C>A ENSP00000509179.1:p.Ile430=
ENST00000689424.1:c.1548C>A ENSP00000509852.1:p.Ile516=
ENST00000691053.1:c.7323C>A ENSP00000509168.1:p.Ile2441=
ENST00000389506.10:c.7242C>A ENSP00000374157.5:p.Ile2414=
ENST00000528278.2:n.6593C>A
ENST00000534358.8:c.7251C>A MANE Select ENSP00000436786.2:p.Ile2417=
ENST00000649699.1:c.7128C>A ENSP00000496927.1:p.Ile2376=
ENST00000389506.9:c.7242C>A ENSP00000374157.5:p.Ile2414=
ENST00000528278.1:n.1378C>A
ENST00000534358.5:c.7251C>A ENSP00000436786.1:p.Ile2417=
NM_001197104.1:c.7251C>A , LRG_613t1:c.7251C>A NP_001184033.1:p.Ile2417=
NM_005933.3:c.7242C>A NP_005924.2:p.Ile2414=
XM_006718839.2:c.4734C>A XP_006718902.2:p.Ile1578=
XM_011542829.1:c.7350C>A XP_011541131.1:p.Ile2450=
XM_011542830.1:c.7347C>A XP_011541132.1:p.Ile2449=
XM_011542831.1:c.7341C>A XP_011541133.1:p.Ile2447=
XM_011542832.1:c.5157C>A XP_011541134.1:p.Ile1719=
XM_011542833.1:c.4833C>A XP_011541135.1:p.Ile1611=
XM_006718839.3:c.4734C>A XP_006718902.2:p.Ile1578=
XM_011542829.2:c.7350C>A XP_011541131.1:p.Ile2450=
XM_011542830.2:c.7347C>A XP_011541132.1:p.Ile2449=
XM_011542831.2:c.7341C>A XP_011541133.1:p.Ile2447=
XM_011542833.2:c.4833C>A XP_011541135.1:p.Ile1611=
NM_001197104.2:c.7251C>A MANE Select NP_001184033.1:p.Ile2417=
NM_005933.4:c.7242C>A NP_005924.2:p.Ile2414=