Canonical Allele Identifier: CA382805741
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503371A>C , CM000673.2:g.118503371A>C GRCh38
NC_000011.9:g.118374086A>C , CM000673.1:g.118374086A>C GRCh37
NC_000011.8:g.117879296A>C NCBI36
NG_027813.1:g.71882A>C , LRG_613:g.71882A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7578A>C ENSP00000432391.3:p.Lys2526Asn
ENST00000710560.1:c.7569A>C ENSP00000518343.1:p.Lys2523Asn
ENST00000649878.2:c.1518A>C ENSP00000497891.2:p.Lys506Asn
ENST00000685397.1:c.1518A>C ENSP00000509586.1:p.Lys506Asn
ENST00000686370.1:c.1518A>C ENSP00000509179.1:p.Lys506Asn
ENST00000689424.1:c.1776A>C ENSP00000509852.1:p.Lys592Asn
ENST00000691053.1:c.7551A>C ENSP00000509168.1:p.Lys2517Asn
ENST00000389506.10:c.7470A>C ENSP00000374157.5:p.Lys2490Asn
ENST00000528278.2:n.6821A>C
ENST00000534358.8:c.7479A>C MANE Select ENSP00000436786.2:p.Lys2493Asn
ENST00000649699.1:c.7356A>C ENSP00000496927.1:p.Lys2452Asn
ENST00000389506.9:c.7470A>C ENSP00000374157.5:p.Lys2490Asn
ENST00000528278.1:n.1606A>C
ENST00000534358.5:c.7479A>C ENSP00000436786.1:p.Lys2493Asn
NM_001197104.1:c.7479A>C , LRG_613t1:c.7479A>C NP_001184033.1:p.Lys2493Asn
NM_005933.3:c.7470A>C NP_005924.2:p.Lys2490Asn
XM_006718839.2:c.4962A>C XP_006718902.2:p.Lys1654Asn
XM_011542829.1:c.7578A>C XP_011541131.1:p.Lys2526Asn
XM_011542830.1:c.7575A>C XP_011541132.1:p.Lys2525Asn
XM_011542831.1:c.7569A>C XP_011541133.1:p.Lys2523Asn
XM_011542832.1:c.5385A>C XP_011541134.1:p.Lys1795Asn
XM_011542833.1:c.5061A>C XP_011541135.1:p.Lys1687Asn
XM_006718839.3:c.4962A>C XP_006718902.2:p.Lys1654Asn
XM_011542829.2:c.7578A>C XP_011541131.1:p.Lys2526Asn
XM_011542830.2:c.7575A>C XP_011541132.1:p.Lys2525Asn
XM_011542831.2:c.7569A>C XP_011541133.1:p.Lys2523Asn
XM_011542833.2:c.5061A>C XP_011541135.1:p.Lys1687Asn
NM_001197104.2:c.7479A>C MANE Select NP_001184033.1:p.Lys2493Asn
NM_005933.4:c.7470A>C NP_005924.2:p.Lys2490Asn