Canonical Allele Identifier: CA382802385
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502499T>A , CM000673.2:g.118502499T>A GRCh38
NC_000011.9:g.118373214T>A , CM000673.1:g.118373214T>A GRCh37
NC_000011.8:g.117878424T>A NCBI36
NG_027813.1:g.71010T>A , LRG_613:g.71010T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.6706T>A ENSP00000432391.3:p.Leu2236Ile
ENST00000710560.1:c.6697T>A ENSP00000518343.1:p.Leu2233Ile
ENST00000649878.2:c.646T>A ENSP00000497891.2:p.Leu216Ile
ENST00000685397.1:c.646T>A ENSP00000509586.1:p.Leu216Ile
ENST00000686370.1:c.646T>A ENSP00000509179.1:p.Leu216Ile
ENST00000689424.1:c.904T>A ENSP00000509852.1:p.Leu302Ile
ENST00000691053.1:c.6679T>A ENSP00000509168.1:p.Leu2227Ile
ENST00000389506.10:c.6598T>A ENSP00000374157.5:p.Leu2200Ile
ENST00000528278.2:n.5949T>A
ENST00000534358.8:c.6607T>A MANE Select ENSP00000436786.2:p.Leu2203Ile
ENST00000649699.1:c.6484T>A ENSP00000496927.1:p.Leu2162Ile
ENST00000389506.9:c.6598T>A ENSP00000374157.5:p.Leu2200Ile
ENST00000528278.1:n.734T>A
ENST00000534358.5:c.6607T>A ENSP00000436786.1:p.Leu2203Ile
NM_001197104.1:c.6607T>A , LRG_613t1:c.6607T>A NP_001184033.1:p.Leu2203Ile
NM_005933.3:c.6598T>A NP_005924.2:p.Leu2200Ile
XM_006718839.2:c.4090T>A XP_006718902.2:p.Leu1364Ile
XM_011542829.1:c.6706T>A XP_011541131.1:p.Leu2236Ile
XM_011542830.1:c.6703T>A XP_011541132.1:p.Leu2235Ile
XM_011542831.1:c.6697T>A XP_011541133.1:p.Leu2233Ile
XM_011542832.1:c.4513T>A XP_011541134.1:p.Leu1505Ile
XM_011542833.1:c.4189T>A XP_011541135.1:p.Leu1397Ile
XM_006718839.3:c.4090T>A XP_006718902.2:p.Leu1364Ile
XM_011542829.2:c.6706T>A XP_011541131.1:p.Leu2236Ile
XM_011542830.2:c.6703T>A XP_011541132.1:p.Leu2235Ile
XM_011542831.2:c.6697T>A XP_011541133.1:p.Leu2233Ile
XM_011542833.2:c.4189T>A XP_011541135.1:p.Leu1397Ile
NM_001197104.2:c.6607T>A MANE Select NP_001184033.1:p.Leu2203Ile
NM_005933.4:c.6598T>A NP_005924.2:p.Leu2200Ile