Canonical Allele Identifier: CA382805407
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503291T>C , CM000673.2:g.118503291T>C GRCh38
NC_000011.9:g.118374006T>C , CM000673.1:g.118374006T>C GRCh37
NC_000011.8:g.117879216T>C NCBI36
NG_027813.1:g.71802T>C , LRG_613:g.71802T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7498T>C ENSP00000432391.3:p.Phe2500Leu
ENST00000710560.1:c.7489T>C ENSP00000518343.1:p.Phe2497Leu
ENST00000649878.2:c.1438T>C ENSP00000497891.2:p.Phe480Leu
ENST00000685397.1:c.1438T>C ENSP00000509586.1:p.Phe480Leu
ENST00000686370.1:c.1438T>C ENSP00000509179.1:p.Phe480Leu
ENST00000689424.1:c.1696T>C ENSP00000509852.1:p.Phe566Leu
ENST00000691053.1:c.7471T>C ENSP00000509168.1:p.Phe2491Leu
ENST00000389506.10:c.7390T>C ENSP00000374157.5:p.Phe2464Leu
ENST00000528278.2:n.6741T>C
ENST00000534358.8:c.7399T>C MANE Select ENSP00000436786.2:p.Phe2467Leu
ENST00000649699.1:c.7276T>C ENSP00000496927.1:p.Phe2426Leu
ENST00000389506.9:c.7390T>C ENSP00000374157.5:p.Phe2464Leu
ENST00000528278.1:n.1526T>C
ENST00000534358.5:c.7399T>C ENSP00000436786.1:p.Phe2467Leu
NM_001197104.1:c.7399T>C , LRG_613t1:c.7399T>C NP_001184033.1:p.Phe2467Leu
NM_005933.3:c.7390T>C NP_005924.2:p.Phe2464Leu
XM_006718839.2:c.4882T>C XP_006718902.2:p.Phe1628Leu
XM_011542829.1:c.7498T>C XP_011541131.1:p.Phe2500Leu
XM_011542830.1:c.7495T>C XP_011541132.1:p.Phe2499Leu
XM_011542831.1:c.7489T>C XP_011541133.1:p.Phe2497Leu
XM_011542832.1:c.5305T>C XP_011541134.1:p.Phe1769Leu
XM_011542833.1:c.4981T>C XP_011541135.1:p.Phe1661Leu
XM_006718839.3:c.4882T>C XP_006718902.2:p.Phe1628Leu
XM_011542829.2:c.7498T>C XP_011541131.1:p.Phe2500Leu
XM_011542830.2:c.7495T>C XP_011541132.1:p.Phe2499Leu
XM_011542831.2:c.7489T>C XP_011541133.1:p.Phe2497Leu
XM_011542833.2:c.4981T>C XP_011541135.1:p.Phe1661Leu
NM_001197104.2:c.7399T>C MANE Select NP_001184033.1:p.Phe2467Leu
NM_005933.4:c.7390T>C NP_005924.2:p.Phe2464Leu