Canonical Allele Identifier: CA6304396
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1917109
ClinVar RCV Id: RCV002598012
dbSNP Id: rs781871965

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503319A>G , CM000673.2:g.118503319A>G GRCh38
NC_000011.9:g.118374034A>G , CM000673.1:g.118374034A>G GRCh37
NC_000011.8:g.117879244A>G NCBI36
NG_027813.1:g.71830A>G , LRG_613:g.71830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7526A>G ENSP00000432391.3:p.Tyr2509Cys
ENST00000710560.1:c.7517A>G ENSP00000518343.1:p.Tyr2506Cys
ENST00000649878.2:c.1466A>G ENSP00000497891.2:p.Tyr489Cys
ENST00000685397.1:c.1466A>G ENSP00000509586.1:p.Tyr489Cys
ENST00000686370.1:c.1466A>G ENSP00000509179.1:p.Tyr489Cys
ENST00000689424.1:c.1724A>G ENSP00000509852.1:p.Tyr575Cys
ENST00000691053.1:c.7499A>G ENSP00000509168.1:p.Tyr2500Cys
ENST00000389506.10:c.7418A>G ENSP00000374157.5:p.Tyr2473Cys
ENST00000528278.2:n.6769A>G
ENST00000534358.8:c.7427A>G MANE Select ENSP00000436786.2:p.Tyr2476Cys
ENST00000649699.1:c.7304A>G ENSP00000496927.1:p.Tyr2435Cys
ENST00000389506.9:c.7418A>G ENSP00000374157.5:p.Tyr2473Cys
ENST00000528278.1:n.1554A>G
ENST00000534358.5:c.7427A>G ENSP00000436786.1:p.Tyr2476Cys
NM_001197104.1:c.7427A>G , LRG_613t1:c.7427A>G NP_001184033.1:p.Tyr2476Cys
NM_005933.3:c.7418A>G NP_005924.2:p.Tyr2473Cys
XM_006718839.2:c.4910A>G XP_006718902.2:p.Tyr1637Cys
XM_011542829.1:c.7526A>G XP_011541131.1:p.Tyr2509Cys
XM_011542830.1:c.7523A>G XP_011541132.1:p.Tyr2508Cys
XM_011542831.1:c.7517A>G XP_011541133.1:p.Tyr2506Cys
XM_011542832.1:c.5333A>G XP_011541134.1:p.Tyr1778Cys
XM_011542833.1:c.5009A>G XP_011541135.1:p.Tyr1670Cys
XM_006718839.3:c.4910A>G XP_006718902.2:p.Tyr1637Cys
XM_011542829.2:c.7526A>G XP_011541131.1:p.Tyr2509Cys
XM_011542830.2:c.7523A>G XP_011541132.1:p.Tyr2508Cys
XM_011542831.2:c.7517A>G XP_011541133.1:p.Tyr2506Cys
XM_011542833.2:c.5009A>G XP_011541135.1:p.Tyr1670Cys
NM_001197104.2:c.7427A>G MANE Select NP_001184033.1:p.Tyr2476Cys
NM_005933.4:c.7418A>G NP_005924.2:p.Tyr2473Cys