Canonical Allele Identifier: CA16044387
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 375619
ClinVar RCV Id: RCV000417110
dbSNP Id: rs1057519403

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118499835G>A , CM000673.2:g.118499835G>A GRCh38
NC_000011.9:g.118370550G>A , CM000673.1:g.118370550G>A GRCh37
NC_000011.8:g.117875760G>A NCBI36
NG_027813.1:g.68346G>A , LRG_613:g.68346G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.6179G>A ENSP00000432391.3:p.Gly2060Glu
ENST00000710560.1:c.6170G>A ENSP00000518343.1:p.Gly2057Glu
ENST00000649878.2:c.119G>A ENSP00000497891.2:p.Gly40Glu
ENST00000685397.1:c.119G>A ENSP00000509586.1:p.Gly40Glu
ENST00000686370.1:c.119G>A ENSP00000509179.1:p.Gly40Glu
ENST00000689424.1:c.377G>A ENSP00000509852.1:p.Gly126Glu
ENST00000691053.1:c.6152G>A ENSP00000509168.1:p.Gly2051Glu
ENST00000389506.10:c.6071G>A ENSP00000374157.5:p.Gly2024Glu
ENST00000528278.2:n.4349G>A
ENST00000534358.8:c.6080G>A MANE Select ENSP00000436786.2:p.Gly2027Glu
ENST00000649699.1:c.5957G>A ENSP00000496927.1:p.Gly1986Glu
ENST00000389506.9:c.6071G>A ENSP00000374157.5:p.Gly2024Glu
ENST00000534358.5:c.6080G>A ENSP00000436786.1:p.Gly2027Glu
NM_001197104.1:c.6080G>A , LRG_613t1:c.6080G>A NP_001184033.1:p.Gly2027Glu
NM_005933.3:c.6071G>A NP_005924.2:p.Gly2024Glu
XM_006718839.2:c.3563G>A XP_006718902.2:p.Gly1188Glu
XM_011542829.1:c.6179G>A XP_011541131.1:p.Gly2060Glu
XM_011542830.1:c.6176G>A XP_011541132.1:p.Gly2059Glu
XM_011542831.1:c.6170G>A XP_011541133.1:p.Gly2057Glu
XM_011542832.1:c.3986G>A XP_011541134.1:p.Gly1329Glu
XM_011542833.1:c.3662G>A XP_011541135.1:p.Gly1221Glu
XM_006718839.3:c.3563G>A XP_006718902.2:p.Gly1188Glu
XM_011542829.2:c.6179G>A XP_011541131.1:p.Gly2060Glu
XM_011542830.2:c.6176G>A XP_011541132.1:p.Gly2059Glu
XM_011542831.2:c.6170G>A XP_011541133.1:p.Gly2057Glu
XM_011542833.2:c.3662G>A XP_011541135.1:p.Gly1221Glu
NM_001197104.2:c.6080G>A MANE Select NP_001184033.1:p.Gly2027Glu
NM_005933.4:c.6071G>A NP_005924.2:p.Gly2024Glu