Canonical Allele Identifier: CA382834281
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491215T>G , CM000673.2:g.118491215T>G GRCh38
NC_000011.9:g.118361930T>G , CM000673.1:g.118361930T>G GRCh37
NC_000011.8:g.117867140T>G NCBI36
NG_027813.1:g.59726T>G , LRG_613:g.59726T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4815T>G ENSP00000432391.3:p.Cys1605Trp
ENST00000710560.1:c.4815T>G ENSP00000518343.1:p.Cys1605Trp
ENST00000685498.1:c.492T>G ENSP00000509293.1:p.Cys164Trp
ENST00000691053.1:c.4716T>G ENSP00000509168.1:p.Cys1572Trp
ENST00000389506.10:c.4716T>G ENSP00000374157.5:p.Cys1572Trp
ENST00000534358.8:c.4716T>G MANE Select ENSP00000436786.2:p.Cys1572Trp
ENST00000649699.1:c.4602T>G ENSP00000496927.1:p.Cys1534Trp
ENST00000389506.9:c.4716T>G ENSP00000374157.5:p.Cys1572Trp
ENST00000392873.3:c.852T>G ENSP00000376612.3:p.Cys284Trp
ENST00000534358.5:c.4716T>G ENSP00000436786.1:p.Cys1572Trp
NM_001197104.1:c.4716T>G , LRG_613t1:c.4716T>G NP_001184033.1:p.Cys1572Trp
NM_005933.3:c.4716T>G NP_005924.2:p.Cys1572Trp
XM_006718839.2:c.2199T>G XP_006718902.2:p.Cys733Trp
XM_011542829.1:c.4815T>G XP_011541131.1:p.Cys1605Trp
XM_011542830.1:c.4812T>G XP_011541132.1:p.Cys1604Trp
XM_011542831.1:c.4815T>G XP_011541133.1:p.Cys1605Trp
XM_011542832.1:c.2622T>G XP_011541134.1:p.Cys874Trp
XM_011542833.1:c.2298T>G XP_011541135.1:p.Cys766Trp
XM_006718839.3:c.2199T>G XP_006718902.2:p.Cys733Trp
XM_011542829.2:c.4815T>G XP_011541131.1:p.Cys1605Trp
XM_011542830.2:c.4812T>G XP_011541132.1:p.Cys1604Trp
XM_011542831.2:c.4815T>G XP_011541133.1:p.Cys1605Trp
XM_011542833.2:c.2298T>G XP_011541135.1:p.Cys766Trp
NM_001197104.2:c.4716T>G MANE Select NP_001184033.1:p.Cys1572Trp
NM_005933.4:c.4716T>G NP_005924.2:p.Cys1572Trp