Canonical Allele Identifier: CA382806041
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503464A>C , CM000673.2:g.118503464A>C GRCh38
NC_000011.9:g.118374179A>C , CM000673.1:g.118374179A>C GRCh37
NC_000011.8:g.117879389A>C NCBI36
NG_027813.1:g.71975A>C , LRG_613:g.71975A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.7671A>C ENSP00000432391.3:p.Lys2557Asn
ENST00000710560.1:c.7662A>C ENSP00000518343.1:p.Lys2554Asn
ENST00000649878.2:c.1611A>C ENSP00000497891.2:p.Lys537Asn
ENST00000685397.1:c.1611A>C ENSP00000509586.1:p.Lys537Asn
ENST00000686370.1:c.1611A>C ENSP00000509179.1:p.Lys537Asn
ENST00000689424.1:c.1869A>C ENSP00000509852.1:p.Lys623Asn
ENST00000691053.1:c.7644A>C ENSP00000509168.1:p.Lys2548Asn
ENST00000389506.10:c.7563A>C ENSP00000374157.5:p.Lys2521Asn
ENST00000528278.2:n.6914A>C
ENST00000534358.8:c.7572A>C MANE Select ENSP00000436786.2:p.Lys2524Asn
ENST00000649699.1:c.7449A>C ENSP00000496927.1:p.Lys2483Asn
ENST00000389506.9:c.7563A>C ENSP00000374157.5:p.Lys2521Asn
ENST00000528278.1:n.1699A>C
ENST00000534358.5:c.7572A>C ENSP00000436786.1:p.Lys2524Asn
NM_001197104.1:c.7572A>C , LRG_613t1:c.7572A>C NP_001184033.1:p.Lys2524Asn
NM_005933.3:c.7563A>C NP_005924.2:p.Lys2521Asn
XM_006718839.2:c.5055A>C XP_006718902.2:p.Lys1685Asn
XM_011542829.1:c.7671A>C XP_011541131.1:p.Lys2557Asn
XM_011542830.1:c.7668A>C XP_011541132.1:p.Lys2556Asn
XM_011542831.1:c.7662A>C XP_011541133.1:p.Lys2554Asn
XM_011542832.1:c.5478A>C XP_011541134.1:p.Lys1826Asn
XM_011542833.1:c.5154A>C XP_011541135.1:p.Lys1718Asn
XM_006718839.3:c.5055A>C XP_006718902.2:p.Lys1685Asn
XM_011542829.2:c.7671A>C XP_011541131.1:p.Lys2557Asn
XM_011542830.2:c.7668A>C XP_011541132.1:p.Lys2556Asn
XM_011542831.2:c.7662A>C XP_011541133.1:p.Lys2554Asn
XM_011542833.2:c.5154A>C XP_011541135.1:p.Lys1718Asn
NM_001197104.2:c.7572A>C MANE Select NP_001184033.1:p.Lys2524Asn
NM_005933.4:c.7563A>C NP_005924.2:p.Lys2521Asn