Canonical Allele Identifier: CA382806478
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503565C>G , CM000673.2:g.118503565C>G GRCh38
NC_000011.9:g.118374280C>G , CM000673.1:g.118374280C>G GRCh37
NC_000011.8:g.117879490C>G NCBI36
NG_027813.1:g.72076C>G , LRG_613:g.72076C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7772C>G ENSP00000432391.3:p.Pro2591Arg
ENST00000710560.1:c.7763C>G ENSP00000518343.1:p.Pro2588Arg
ENST00000649878.2:c.1712C>G ENSP00000497891.2:p.Pro571Arg
ENST00000685397.1:c.1712C>G ENSP00000509586.1:p.Pro571Arg
ENST00000686370.1:c.1712C>G ENSP00000509179.1:p.Pro571Arg
ENST00000689424.1:c.1970C>G ENSP00000509852.1:p.Pro657Arg
ENST00000691053.1:c.7745C>G ENSP00000509168.1:p.Pro2582Arg
ENST00000389506.10:c.7664C>G ENSP00000374157.5:p.Pro2555Arg
ENST00000528278.2:n.7015C>G
ENST00000534358.8:c.7673C>G MANE Select ENSP00000436786.2:p.Pro2558Arg
ENST00000649699.1:c.7550C>G ENSP00000496927.1:p.Pro2517Arg
ENST00000389506.9:c.7664C>G ENSP00000374157.5:p.Pro2555Arg
ENST00000534358.5:c.7673C>G ENSP00000436786.1:p.Pro2558Arg
NM_001197104.1:c.7673C>G , LRG_613t1:c.7673C>G NP_001184033.1:p.Pro2558Arg
NM_005933.3:c.7664C>G NP_005924.2:p.Pro2555Arg
XM_006718839.2:c.5156C>G XP_006718902.2:p.Pro1719Arg
XM_011542829.1:c.7772C>G XP_011541131.1:p.Pro2591Arg
XM_011542830.1:c.7769C>G XP_011541132.1:p.Pro2590Arg
XM_011542831.1:c.7763C>G XP_011541133.1:p.Pro2588Arg
XM_011542832.1:c.5579C>G XP_011541134.1:p.Pro1860Arg
XM_011542833.1:c.5255C>G XP_011541135.1:p.Pro1752Arg
XM_006718839.3:c.5156C>G XP_006718902.2:p.Pro1719Arg
XM_011542829.2:c.7772C>G XP_011541131.1:p.Pro2591Arg
XM_011542830.2:c.7769C>G XP_011541132.1:p.Pro2590Arg
XM_011542831.2:c.7763C>G XP_011541133.1:p.Pro2588Arg
XM_011542833.2:c.5255C>G XP_011541135.1:p.Pro1752Arg
NM_001197104.2:c.7673C>G MANE Select NP_001184033.1:p.Pro2558Arg
NM_005933.4:c.7664C>G NP_005924.2:p.Pro2555Arg