Canonical Allele Identifier: CA382834324
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491231G>C , CM000673.2:g.118491231G>C GRCh38
NC_000011.9:g.118361946G>C , CM000673.1:g.118361946G>C GRCh37
NC_000011.8:g.117867156G>C NCBI36
NG_027813.1:g.59742G>C , LRG_613:g.59742G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4831G>C ENSP00000432391.3:p.Asp1611His
ENST00000710560.1:c.4831G>C ENSP00000518343.1:p.Asp1611His
ENST00000685498.1:c.508G>C ENSP00000509293.1:p.Asp170His
ENST00000691053.1:c.4732G>C ENSP00000509168.1:p.Asp1578His
ENST00000389506.10:c.4732G>C ENSP00000374157.5:p.Asp1578His
ENST00000534358.8:c.4732G>C MANE Select ENSP00000436786.2:p.Asp1578His
ENST00000649699.1:c.4618G>C ENSP00000496927.1:p.Asp1540His
ENST00000389506.9:c.4732G>C ENSP00000374157.5:p.Asp1578His
ENST00000392873.3:c.868G>C ENSP00000376612.3:p.Asp290His
ENST00000534358.5:c.4732G>C ENSP00000436786.1:p.Asp1578His
NM_001197104.1:c.4732G>C , LRG_613t1:c.4732G>C NP_001184033.1:p.Asp1578His
NM_005933.3:c.4732G>C NP_005924.2:p.Asp1578His
XM_006718839.2:c.2215G>C XP_006718902.2:p.Asp739His
XM_011542829.1:c.4831G>C XP_011541131.1:p.Asp1611His
XM_011542830.1:c.4828G>C XP_011541132.1:p.Asp1610His
XM_011542831.1:c.4831G>C XP_011541133.1:p.Asp1611His
XM_011542832.1:c.2638G>C XP_011541134.1:p.Asp880His
XM_011542833.1:c.2314G>C XP_011541135.1:p.Asp772His
XM_006718839.3:c.2215G>C XP_006718902.2:p.Asp739His
XM_011542829.2:c.4831G>C XP_011541131.1:p.Asp1611His
XM_011542830.2:c.4828G>C XP_011541132.1:p.Asp1610His
XM_011542831.2:c.4831G>C XP_011541133.1:p.Asp1611His
XM_011542833.2:c.2314G>C XP_011541135.1:p.Asp772His
NM_001197104.2:c.4732G>C MANE Select NP_001184033.1:p.Asp1578His
NM_005933.4:c.4732G>C NP_005924.2:p.Asp1578His