Canonical Allele Identifier: CA382816025
Community Standard Title: NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118504658A>C , CM000673.2:g.118504658A>C GRCh38
NC_000011.9:g.118375373A>C , CM000673.1:g.118375373A>C GRCh37
NC_000011.8:g.117880583A>C NCBI36
NG_027813.1:g.73169A>C , LRG_613:g.73169A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.8766A>C MANE Select NP_001184033.1:p.Glu2922Asp
ENST00000534358.8:c.8766A>C MANE Select ENSP00000436786.2:p.Glu2922Asp
NM_001197104.1:c.8766A>C , LRG_613t1:c.8766A>C NP_001184033.1:p.Glu2922Asp
NM_005933.3:c.8757A>C NP_005924.2:p.Glu2919Asp
NM_005933.4:c.8757A>C NP_005924.2:p.Glu2919Asp
ENST00000389506.10:c.8757A>C ENSP00000374157.5:p.Glu2919Asp
ENST00000389506.9:c.8757A>C ENSP00000374157.5:p.Glu2919Asp
ENST00000528278.2:n.8108A>C
ENST00000531904.7:c.8865A>C ENSP00000432391.3:p.Glu2955Asp
ENST00000534358.5:c.8766A>C ENSP00000436786.1:p.Glu2922Asp
ENST00000649699.1:c.8643A>C ENSP00000496927.1:p.Glu2881Asp
ENST00000649878.2:c.2805A>C ENSP00000497891.2:p.Glu935Asp
ENST00000685397.1:c.2805A>C ENSP00000509586.1:p.Glu935Asp
ENST00000686370.1:c.2805A>C ENSP00000509179.1:p.Glu935Asp
ENST00000689424.1:c.3063A>C ENSP00000509852.1:p.Glu1021Asp
ENST00000691053.1:c.8838A>C ENSP00000509168.1:p.Glu2946Asp
ENST00000710560.1:c.8856A>C ENSP00000518343.1:p.Glu2952Asp
XM_006718839.2:c.6249A>C XP_006718902.2:p.Glu2083Asp
XM_006718839.3:c.6249A>C XP_006718902.2:p.Glu2083Asp
XM_011542829.1:c.8865A>C XP_011541131.1:p.Glu2955Asp
XM_011542829.2:c.8865A>C XP_011541131.1:p.Glu2955Asp
XM_011542830.1:c.8862A>C XP_011541132.1:p.Glu2954Asp
XM_011542830.2:c.8862A>C XP_011541132.1:p.Glu2954Asp
XM_011542831.1:c.8856A>C XP_011541133.1:p.Glu2952Asp
XM_011542831.2:c.8856A>C XP_011541133.1:p.Glu2952Asp
XM_011542832.1:c.6672A>C XP_011541134.1:p.Glu2224Asp
XM_011542833.1:c.6348A>C XP_011541135.1:p.Glu2116Asp
XM_011542833.2:c.6348A>C XP_011541135.1:p.Glu2116Asp