Canonical Allele Identifier: CA382805212
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503240T>G , CM000673.2:g.118503240T>G GRCh38
NC_000011.9:g.118373955T>G , CM000673.1:g.118373955T>G GRCh37
NC_000011.8:g.117879165T>G NCBI36
NG_027813.1:g.71751T>G , LRG_613:g.71751T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7447T>G ENSP00000432391.3:p.Leu2483Val
ENST00000710560.1:c.7438T>G ENSP00000518343.1:p.Leu2480Val
ENST00000649878.2:c.1387T>G ENSP00000497891.2:p.Leu463Val
ENST00000685397.1:c.1387T>G ENSP00000509586.1:p.Leu463Val
ENST00000686370.1:c.1387T>G ENSP00000509179.1:p.Leu463Val
ENST00000689424.1:c.1645T>G ENSP00000509852.1:p.Leu549Val
ENST00000691053.1:c.7420T>G ENSP00000509168.1:p.Leu2474Val
ENST00000389506.10:c.7339T>G ENSP00000374157.5:p.Leu2447Val
ENST00000528278.2:n.6690T>G
ENST00000534358.8:c.7348T>G MANE Select ENSP00000436786.2:p.Leu2450Val
ENST00000649699.1:c.7225T>G ENSP00000496927.1:p.Leu2409Val
ENST00000389506.9:c.7339T>G ENSP00000374157.5:p.Leu2447Val
ENST00000528278.1:n.1475T>G
ENST00000534358.5:c.7348T>G ENSP00000436786.1:p.Leu2450Val
NM_001197104.1:c.7348T>G , LRG_613t1:c.7348T>G NP_001184033.1:p.Leu2450Val
NM_005933.3:c.7339T>G NP_005924.2:p.Leu2447Val
XM_006718839.2:c.4831T>G XP_006718902.2:p.Leu1611Val
XM_011542829.1:c.7447T>G XP_011541131.1:p.Leu2483Val
XM_011542830.1:c.7444T>G XP_011541132.1:p.Leu2482Val
XM_011542831.1:c.7438T>G XP_011541133.1:p.Leu2480Val
XM_011542832.1:c.5254T>G XP_011541134.1:p.Leu1752Val
XM_011542833.1:c.4930T>G XP_011541135.1:p.Leu1644Val
XM_006718839.3:c.4831T>G XP_006718902.2:p.Leu1611Val
XM_011542829.2:c.7447T>G XP_011541131.1:p.Leu2483Val
XM_011542830.2:c.7444T>G XP_011541132.1:p.Leu2482Val
XM_011542831.2:c.7438T>G XP_011541133.1:p.Leu2480Val
XM_011542833.2:c.4930T>G XP_011541135.1:p.Leu1644Val
NM_001197104.2:c.7348T>G MANE Select NP_001184033.1:p.Leu2450Val
NM_005933.4:c.7339T>G NP_005924.2:p.Leu2447Val