Canonical Allele Identifier: CA382834249
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491202T>A , CM000673.2:g.118491202T>A GRCh38
NC_000011.9:g.118361917T>A , CM000673.1:g.118361917T>A GRCh37
NC_000011.8:g.117867127T>A NCBI36
NG_027813.1:g.59713T>A , LRG_613:g.59713T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4802T>A ENSP00000432391.3:p.Phe1601Tyr
ENST00000710560.1:c.4802T>A ENSP00000518343.1:p.Phe1601Tyr
ENST00000685498.1:c.479T>A ENSP00000509293.1:p.Phe160Tyr
ENST00000691053.1:c.4703T>A ENSP00000509168.1:p.Phe1568Tyr
ENST00000389506.10:c.4703T>A ENSP00000374157.5:p.Phe1568Tyr
ENST00000534358.8:c.4703T>A MANE Select ENSP00000436786.2:p.Phe1568Tyr
ENST00000649699.1:c.4589T>A ENSP00000496927.1:p.Phe1530Tyr
ENST00000389506.9:c.4703T>A ENSP00000374157.5:p.Phe1568Tyr
ENST00000392873.3:c.839T>A ENSP00000376612.3:p.Phe280Tyr
ENST00000534358.5:c.4703T>A ENSP00000436786.1:p.Phe1568Tyr
NM_001197104.1:c.4703T>A , LRG_613t1:c.4703T>A NP_001184033.1:p.Phe1568Tyr
NM_005933.3:c.4703T>A NP_005924.2:p.Phe1568Tyr
XM_006718839.2:c.2186T>A XP_006718902.2:p.Phe729Tyr
XM_011542829.1:c.4802T>A XP_011541131.1:p.Phe1601Tyr
XM_011542830.1:c.4799T>A XP_011541132.1:p.Phe1600Tyr
XM_011542831.1:c.4802T>A XP_011541133.1:p.Phe1601Tyr
XM_011542832.1:c.2609T>A XP_011541134.1:p.Phe870Tyr
XM_011542833.1:c.2285T>A XP_011541135.1:p.Phe762Tyr
XM_006718839.3:c.2186T>A XP_006718902.2:p.Phe729Tyr
XM_011542829.2:c.4802T>A XP_011541131.1:p.Phe1601Tyr
XM_011542830.2:c.4799T>A XP_011541132.1:p.Phe1600Tyr
XM_011542831.2:c.4802T>A XP_011541133.1:p.Phe1601Tyr
XM_011542833.2:c.2285T>A XP_011541135.1:p.Phe762Tyr
NM_001197104.2:c.4703T>A MANE Select NP_001184033.1:p.Phe1568Tyr
NM_005933.4:c.4703T>A NP_005924.2:p.Phe1568Tyr