Canonical Allele Identifier: CA2003519160
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491282G= , CM000673.2:g.118491282G= GRCh38
NC_000011.9:g.118361997G= , CM000673.1:g.118361997G= GRCh37
NC_000011.8:g.117867207G= NCBI36
NG_027813.1:g.59793G= , LRG_613:g.59793G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4882G= ENSP00000432391.3:p.Val1628=
ENST00000710560.1:c.4882G= ENSP00000518343.1:p.Val1628=
ENST00000685498.1:c.559G= ENSP00000509293.1:p.Val187=
ENST00000691053.1:c.4783G= ENSP00000509168.1:p.Val1595=
ENST00000389506.10:c.4783G= ENSP00000374157.5:p.Val1595=
ENST00000534358.8:c.4783G= MANE Select ENSP00000436786.2:p.Val1595=
ENST00000649699.1:c.4669G= ENSP00000496927.1:p.Val1557=
ENST00000389506.9:c.4783G= ENSP00000374157.5:p.Val1595=
ENST00000392873.3:c.919G= ENSP00000376612.3:p.Val307=
ENST00000534358.5:c.4783G= ENSP00000436786.1:p.Val1595=
NM_001197104.1:c.4783G= , LRG_613t1:c.4783G= NP_001184033.1:p.Val1595=
NM_005933.3:c.4783G= NP_005924.2:p.Val1595=
XM_006718839.2:c.2266G= XP_006718902.2:p.Val756=
XM_011542829.1:c.4882G= XP_011541131.1:p.Val1628=
XM_011542830.1:c.4879G= XP_011541132.1:p.Val1627=
XM_011542831.1:c.4882G= XP_011541133.1:p.Val1628=
XM_011542832.1:c.2689G= XP_011541134.1:p.Val897=
XM_011542833.1:c.2365G= XP_011541135.1:p.Val789=
XM_006718839.3:c.2266G= XP_006718902.2:p.Val756=
XM_011542829.2:c.4882G= XP_011541131.1:p.Val1628=
XM_011542830.2:c.4879G= XP_011541132.1:p.Val1627=
XM_011542831.2:c.4882G= XP_011541133.1:p.Val1628=
XM_011542833.2:c.2365G= XP_011541135.1:p.Val789=
NM_001197104.2:c.4783G= MANE Select NP_001184033.1:p.Val1595=
NM_005933.4:c.4783G= NP_005924.2:p.Val1595=