Canonical Allele Identifier: CA382805180
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503231A>T , CM000673.2:g.118503231A>T GRCh38
NC_000011.9:g.118373946A>T , CM000673.1:g.118373946A>T GRCh37
NC_000011.8:g.117879156A>T NCBI36
NG_027813.1:g.71742A>T , LRG_613:g.71742A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7438A>T ENSP00000432391.3:p.Lys2480Ter
ENST00000710560.1:c.7429A>T ENSP00000518343.1:p.Lys2477Ter
ENST00000649878.2:c.1378A>T ENSP00000497891.2:p.Lys460Ter
ENST00000685397.1:c.1378A>T ENSP00000509586.1:p.Lys460Ter
ENST00000686370.1:c.1378A>T ENSP00000509179.1:p.Lys460Ter
ENST00000689424.1:c.1636A>T ENSP00000509852.1:p.Lys546Ter
ENST00000691053.1:c.7411A>T ENSP00000509168.1:p.Lys2471Ter
ENST00000389506.10:c.7330A>T ENSP00000374157.5:p.Lys2444Ter
ENST00000528278.2:n.6681A>T
ENST00000534358.8:c.7339A>T MANE Select ENSP00000436786.2:p.Lys2447Ter
ENST00000649699.1:c.7216A>T ENSP00000496927.1:p.Lys2406Ter
ENST00000389506.9:c.7330A>T ENSP00000374157.5:p.Lys2444Ter
ENST00000528278.1:n.1466A>T
ENST00000534358.5:c.7339A>T ENSP00000436786.1:p.Lys2447Ter
NM_001197104.1:c.7339A>T , LRG_613t1:c.7339A>T NP_001184033.1:p.Lys2447Ter
NM_005933.3:c.7330A>T NP_005924.2:p.Lys2444Ter
XM_006718839.2:c.4822A>T XP_006718902.2:p.Lys1608Ter
XM_011542829.1:c.7438A>T XP_011541131.1:p.Lys2480Ter
XM_011542830.1:c.7435A>T XP_011541132.1:p.Lys2479Ter
XM_011542831.1:c.7429A>T XP_011541133.1:p.Lys2477Ter
XM_011542832.1:c.5245A>T XP_011541134.1:p.Lys1749Ter
XM_011542833.1:c.4921A>T XP_011541135.1:p.Lys1641Ter
XM_006718839.3:c.4822A>T XP_006718902.2:p.Lys1608Ter
XM_011542829.2:c.7438A>T XP_011541131.1:p.Lys2480Ter
XM_011542830.2:c.7435A>T XP_011541132.1:p.Lys2479Ter
XM_011542831.2:c.7429A>T XP_011541133.1:p.Lys2477Ter
XM_011542833.2:c.4921A>T XP_011541135.1:p.Lys1641Ter
NM_001197104.2:c.7339A>T MANE Select NP_001184033.1:p.Lys2447Ter
NM_005933.4:c.7330A>T NP_005924.2:p.Lys2444Ter