Canonical Allele Identifier: CA382804900
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs2134390809

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503160C>T , CM000673.2:g.118503160C>T GRCh38
NC_000011.9:g.118373875C>T , CM000673.1:g.118373875C>T GRCh37
NC_000011.8:g.117879085C>T NCBI36
NG_027813.1:g.71671C>T , LRG_613:g.71671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7367C>T ENSP00000432391.3:p.Ser2456Phe
ENST00000710560.1:c.7358C>T ENSP00000518343.1:p.Ser2453Phe
ENST00000649878.2:c.1307C>T ENSP00000497891.2:p.Ser436Phe
ENST00000685397.1:c.1307C>T ENSP00000509586.1:p.Ser436Phe
ENST00000686370.1:c.1307C>T ENSP00000509179.1:p.Ser436Phe
ENST00000689424.1:c.1565C>T ENSP00000509852.1:p.Ser522Phe
ENST00000691053.1:c.7340C>T ENSP00000509168.1:p.Ser2447Phe
ENST00000389506.10:c.7259C>T ENSP00000374157.5:p.Ser2420Phe
ENST00000528278.2:n.6610C>T
ENST00000534358.8:c.7268C>T MANE Select ENSP00000436786.2:p.Ser2423Phe
ENST00000649699.1:c.7145C>T ENSP00000496927.1:p.Ser2382Phe
ENST00000389506.9:c.7259C>T ENSP00000374157.5:p.Ser2420Phe
ENST00000528278.1:n.1395C>T
ENST00000534358.5:c.7268C>T ENSP00000436786.1:p.Ser2423Phe
NM_001197104.1:c.7268C>T , LRG_613t1:c.7268C>T NP_001184033.1:p.Ser2423Phe
NM_005933.3:c.7259C>T NP_005924.2:p.Ser2420Phe
XM_006718839.2:c.4751C>T XP_006718902.2:p.Ser1584Phe
XM_011542829.1:c.7367C>T XP_011541131.1:p.Ser2456Phe
XM_011542830.1:c.7364C>T XP_011541132.1:p.Ser2455Phe
XM_011542831.1:c.7358C>T XP_011541133.1:p.Ser2453Phe
XM_011542832.1:c.5174C>T XP_011541134.1:p.Ser1725Phe
XM_011542833.1:c.4850C>T XP_011541135.1:p.Ser1617Phe
XM_006718839.3:c.4751C>T XP_006718902.2:p.Ser1584Phe
XM_011542829.2:c.7367C>T XP_011541131.1:p.Ser2456Phe
XM_011542830.2:c.7364C>T XP_011541132.1:p.Ser2455Phe
XM_011542831.2:c.7358C>T XP_011541133.1:p.Ser2453Phe
XM_011542833.2:c.4850C>T XP_011541135.1:p.Ser1617Phe
NM_001197104.2:c.7268C>T MANE Select NP_001184033.1:p.Ser2423Phe
NM_005933.4:c.7259C>T NP_005924.2:p.Ser2420Phe