Canonical Allele Identifier: CA477359337
Gene: KMT2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118373951T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503236T>G , CM000673.2:g.118503236T>G GRCh38
NC_000011.9:g.118373951T>G , CM000673.1:g.118373951T>G GRCh37
NC_000011.8:g.117879161T>G NCBI36
NG_027813.1:g.71747T>G , LRG_613:g.71747T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7443T>G ENSP00000432391.3:p.Ser2481=
ENST00000710560.1:c.7434T>G ENSP00000518343.1:p.Ser2478=
ENST00000649878.2:c.1383T>G ENSP00000497891.2:p.Ser461=
ENST00000685397.1:c.1383T>G ENSP00000509586.1:p.Ser461=
ENST00000686370.1:c.1383T>G ENSP00000509179.1:p.Ser461=
ENST00000689424.1:c.1641T>G ENSP00000509852.1:p.Ser547=
ENST00000691053.1:c.7416T>G ENSP00000509168.1:p.Ser2472=
ENST00000389506.10:c.7335T>G ENSP00000374157.5:p.Ser2445=
ENST00000528278.2:n.6686T>G
ENST00000534358.8:c.7344T>G MANE Select ENSP00000436786.2:p.Ser2448=
ENST00000649699.1:c.7221T>G ENSP00000496927.1:p.Ser2407=
ENST00000389506.9:c.7335T>G ENSP00000374157.5:p.Ser2445=
ENST00000528278.1:n.1471T>G
ENST00000534358.5:c.7344T>G ENSP00000436786.1:p.Ser2448=
NM_001197104.1:c.7344T>G , LRG_613t1:c.7344T>G NP_001184033.1:p.Ser2448=
NM_005933.3:c.7335T>G NP_005924.2:p.Ser2445=
XM_006718839.2:c.4827T>G XP_006718902.2:p.Ser1609=
XM_011542829.1:c.7443T>G XP_011541131.1:p.Ser2481=
XM_011542830.1:c.7440T>G XP_011541132.1:p.Ser2480=
XM_011542831.1:c.7434T>G XP_011541133.1:p.Ser2478=
XM_011542832.1:c.5250T>G XP_011541134.1:p.Ser1750=
XM_011542833.1:c.4926T>G XP_011541135.1:p.Ser1642=
XM_006718839.3:c.4827T>G XP_006718902.2:p.Ser1609=
XM_011542829.2:c.7443T>G XP_011541131.1:p.Ser2481=
XM_011542830.2:c.7440T>G XP_011541132.1:p.Ser2480=
XM_011542831.2:c.7434T>G XP_011541133.1:p.Ser2478=
XM_011542833.2:c.4926T>G XP_011541135.1:p.Ser1642=
NM_001197104.2:c.7344T>G MANE Select NP_001184033.1:p.Ser2448=
NM_005933.4:c.7335T>G NP_005924.2:p.Ser2445=