Canonical Allele Identifier: CA382834397
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491259A>C , CM000673.2:g.118491259A>C GRCh38
NC_000011.9:g.118361974A>C , CM000673.1:g.118361974A>C GRCh37
NC_000011.8:g.117867184A>C NCBI36
NG_027813.1:g.59770A>C , LRG_613:g.59770A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4859A>C ENSP00000432391.3:p.Gln1620Pro
ENST00000710560.1:c.4859A>C ENSP00000518343.1:p.Gln1620Pro
ENST00000685498.1:c.536A>C ENSP00000509293.1:p.Gln179Pro
ENST00000691053.1:c.4760A>C ENSP00000509168.1:p.Gln1587Pro
ENST00000389506.10:c.4760A>C ENSP00000374157.5:p.Gln1587Pro
ENST00000534358.8:c.4760A>C MANE Select ENSP00000436786.2:p.Gln1587Pro
ENST00000649699.1:c.4646A>C ENSP00000496927.1:p.Gln1549Pro
ENST00000389506.9:c.4760A>C ENSP00000374157.5:p.Gln1587Pro
ENST00000392873.3:c.896A>C ENSP00000376612.3:p.Gln299Pro
ENST00000534358.5:c.4760A>C ENSP00000436786.1:p.Gln1587Pro
NM_001197104.1:c.4760A>C , LRG_613t1:c.4760A>C NP_001184033.1:p.Gln1587Pro
NM_005933.3:c.4760A>C NP_005924.2:p.Gln1587Pro
XM_006718839.2:c.2243A>C XP_006718902.2:p.Gln748Pro
XM_011542829.1:c.4859A>C XP_011541131.1:p.Gln1620Pro
XM_011542830.1:c.4856A>C XP_011541132.1:p.Gln1619Pro
XM_011542831.1:c.4859A>C XP_011541133.1:p.Gln1620Pro
XM_011542832.1:c.2666A>C XP_011541134.1:p.Gln889Pro
XM_011542833.1:c.2342A>C XP_011541135.1:p.Gln781Pro
XM_006718839.3:c.2243A>C XP_006718902.2:p.Gln748Pro
XM_011542829.2:c.4859A>C XP_011541131.1:p.Gln1620Pro
XM_011542830.2:c.4856A>C XP_011541132.1:p.Gln1619Pro
XM_011542831.2:c.4859A>C XP_011541133.1:p.Gln1620Pro
XM_011542833.2:c.2342A>C XP_011541135.1:p.Gln781Pro
NM_001197104.2:c.4760A>C MANE Select NP_001184033.1:p.Gln1587Pro
NM_005933.4:c.4760A>C NP_005924.2:p.Gln1587Pro