Canonical Allele Identifier: CA382822729
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1064797024

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118506031C>T , CM000673.2:g.118506031C>T GRCh38
NC_000011.9:g.118376746C>T , CM000673.1:g.118376746C>T GRCh37
NC_000011.8:g.117881956C>T NCBI36
NG_027813.1:g.74542C>T , LRG_613:g.74542C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.10238C>T ENSP00000432391.3:p.Ser3413Leu
ENST00000710560.1:c.10229C>T ENSP00000518343.1:p.Ser3410Leu
ENST00000649878.2:c.4178C>T ENSP00000497891.2:p.Ser1393Leu
ENST00000685397.1:c.4178C>T ENSP00000509586.1:p.Ser1393Leu
ENST00000686370.1:c.4178C>T ENSP00000509179.1:p.Ser1393Leu
ENST00000689424.1:c.4436C>T ENSP00000509852.1:p.Ser1479Leu
ENST00000691053.1:c.10211C>T ENSP00000509168.1:p.Ser3404Leu
ENST00000389506.10:c.10130C>T ENSP00000374157.5:p.Ser3377Leu
ENST00000534085.2:n.418C>T
ENST00000534358.8:c.10139C>T MANE Select ENSP00000436786.2:p.Ser3380Leu
ENST00000649699.1:c.10016C>T ENSP00000496927.1:p.Ser3339Leu
ENST00000389506.9:c.10130C>T ENSP00000374157.5:p.Ser3377Leu
ENST00000534358.5:c.10139C>T ENSP00000436786.1:p.Ser3380Leu
NM_001197104.1:c.10139C>T , LRG_613t1:c.10139C>T NP_001184033.1:p.Ser3380Leu
NM_005933.3:c.10130C>T NP_005924.2:p.Ser3377Leu
XM_006718839.2:c.7622C>T XP_006718902.2:p.Ser2541Leu
XM_011542829.1:c.10238C>T XP_011541131.1:p.Ser3413Leu
XM_011542830.1:c.10235C>T XP_011541132.1:p.Ser3412Leu
XM_011542831.1:c.10229C>T XP_011541133.1:p.Ser3410Leu
XM_011542832.1:c.8045C>T XP_011541134.1:p.Ser2682Leu
XM_011542833.1:c.7721C>T XP_011541135.1:p.Ser2574Leu
XM_006718839.3:c.7622C>T XP_006718902.2:p.Ser2541Leu
XM_011542829.2:c.10238C>T XP_011541131.1:p.Ser3413Leu
XM_011542830.2:c.10235C>T XP_011541132.1:p.Ser3412Leu
XM_011542831.2:c.10229C>T XP_011541133.1:p.Ser3410Leu
XM_011542833.2:c.7721C>T XP_011541135.1:p.Ser2574Leu
NM_001197104.2:c.10139C>T MANE Select NP_001184033.1:p.Ser3380Leu
NM_005933.4:c.10130C>T NP_005924.2:p.Ser3377Leu