Canonical Allele Identifier: CA382834524
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491311T>C , CM000673.2:g.118491311T>C GRCh38
NC_000011.9:g.118362026T>C , CM000673.1:g.118362026T>C GRCh37
NC_000011.8:g.117867236T>C NCBI36
NG_027813.1:g.59822T>C , LRG_613:g.59822T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4911T>C ENSP00000432391.3:p.Gly1637=
ENST00000710560.1:c.4909+2T>C ENSP00000518343.1:n.4909+2T>C
ENST00000685498.1:c.588T>C ENSP00000509293.1:p.Gly196=
ENST00000691053.1:c.4810+2T>C ENSP00000509168.1:n.4810+2T>C
ENST00000389506.10:c.4810+2T>C ENSP00000374157.5:n.4810+2T>C
ENST00000534358.8:c.4812T>C MANE Select ENSP00000436786.2:p.Gly1604=
ENST00000649699.1:c.4696+2T>C ENSP00000496927.1:n.4696+2T>C
ENST00000389506.9:c.4810+2T>C ENSP00000374157.5:n.4810+2T>C
ENST00000392873.3:c.946+2T>C ENSP00000376612.3:n.946+2T>C
ENST00000534358.5:c.4812T>C ENSP00000436786.1:p.Gly1604=
NM_001197104.1:c.4812T>C , LRG_613t1:c.4812T>C NP_001184033.1:p.Gly1604=
NM_005933.3:c.4810+2T>C NP_005924.2:n.4810+2T>C
XM_006718839.2:c.2295T>C XP_006718902.2:p.Gly765=
XM_011542829.1:c.4911T>C XP_011541131.1:p.Gly1637=
XM_011542830.1:c.4908T>C XP_011541132.1:p.Gly1636=
XM_011542831.1:c.4909+2T>C XP_011541133.1:n.4909+2T>C
XM_011542832.1:c.2718T>C XP_011541134.1:p.Gly906=
XM_011542833.1:c.2394T>C XP_011541135.1:p.Gly798=
XM_006718839.3:c.2295T>C XP_006718902.2:p.Gly765=
XM_011542829.2:c.4911T>C XP_011541131.1:p.Gly1637=
XM_011542830.2:c.4908T>C XP_011541132.1:p.Gly1636=
XM_011542831.2:c.4909+2T>C XP_011541133.1:n.4909+2T>C
XM_011542833.2:c.2394T>C XP_011541135.1:p.Gly798=
NM_001197104.2:c.4812T>C MANE Select NP_001184033.1:p.Gly1604=
NM_005933.4:c.4810+2T>C NP_005924.2:n.4810+2T>C