Canonical Allele Identifier: CA382805276
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503258A>C , CM000673.2:g.118503258A>C GRCh38
NC_000011.9:g.118373973A>C , CM000673.1:g.118373973A>C GRCh37
NC_000011.8:g.117879183A>C NCBI36
NG_027813.1:g.71769A>C , LRG_613:g.71769A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7465A>C ENSP00000432391.3:p.Thr2489Pro
ENST00000710560.1:c.7456A>C ENSP00000518343.1:p.Thr2486Pro
ENST00000649878.2:c.1405A>C ENSP00000497891.2:p.Thr469Pro
ENST00000685397.1:c.1405A>C ENSP00000509586.1:p.Thr469Pro
ENST00000686370.1:c.1405A>C ENSP00000509179.1:p.Thr469Pro
ENST00000689424.1:c.1663A>C ENSP00000509852.1:p.Thr555Pro
ENST00000691053.1:c.7438A>C ENSP00000509168.1:p.Thr2480Pro
ENST00000389506.10:c.7357A>C ENSP00000374157.5:p.Thr2453Pro
ENST00000528278.2:n.6708A>C
ENST00000534358.8:c.7366A>C MANE Select ENSP00000436786.2:p.Thr2456Pro
ENST00000649699.1:c.7243A>C ENSP00000496927.1:p.Thr2415Pro
ENST00000389506.9:c.7357A>C ENSP00000374157.5:p.Thr2453Pro
ENST00000528278.1:n.1493A>C
ENST00000534358.5:c.7366A>C ENSP00000436786.1:p.Thr2456Pro
NM_001197104.1:c.7366A>C , LRG_613t1:c.7366A>C NP_001184033.1:p.Thr2456Pro
NM_005933.3:c.7357A>C NP_005924.2:p.Thr2453Pro
XM_006718839.2:c.4849A>C XP_006718902.2:p.Thr1617Pro
XM_011542829.1:c.7465A>C XP_011541131.1:p.Thr2489Pro
XM_011542830.1:c.7462A>C XP_011541132.1:p.Thr2488Pro
XM_011542831.1:c.7456A>C XP_011541133.1:p.Thr2486Pro
XM_011542832.1:c.5272A>C XP_011541134.1:p.Thr1758Pro
XM_011542833.1:c.4948A>C XP_011541135.1:p.Thr1650Pro
XM_006718839.3:c.4849A>C XP_006718902.2:p.Thr1617Pro
XM_011542829.2:c.7465A>C XP_011541131.1:p.Thr2489Pro
XM_011542830.2:c.7462A>C XP_011541132.1:p.Thr2488Pro
XM_011542831.2:c.7456A>C XP_011541133.1:p.Thr2486Pro
XM_011542833.2:c.4948A>C XP_011541135.1:p.Thr1650Pro
NM_001197104.2:c.7366A>C MANE Select NP_001184033.1:p.Thr2456Pro
NM_005933.4:c.7357A>C NP_005924.2:p.Thr2453Pro