Canonical Allele Identifier: CA382805701
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503361T>A , CM000673.2:g.118503361T>A GRCh38
NC_000011.9:g.118374076T>A , CM000673.1:g.118374076T>A GRCh37
NC_000011.8:g.117879286T>A NCBI36
NG_027813.1:g.71872T>A , LRG_613:g.71872T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7568T>A ENSP00000432391.3:p.Ile2523Asn
ENST00000710560.1:c.7559T>A ENSP00000518343.1:p.Ile2520Asn
ENST00000649878.2:c.1508T>A ENSP00000497891.2:p.Ile503Asn
ENST00000685397.1:c.1508T>A ENSP00000509586.1:p.Ile503Asn
ENST00000686370.1:c.1508T>A ENSP00000509179.1:p.Ile503Asn
ENST00000689424.1:c.1766T>A ENSP00000509852.1:p.Ile589Asn
ENST00000691053.1:c.7541T>A ENSP00000509168.1:p.Ile2514Asn
ENST00000389506.10:c.7460T>A ENSP00000374157.5:p.Ile2487Asn
ENST00000528278.2:n.6811T>A
ENST00000534358.8:c.7469T>A MANE Select ENSP00000436786.2:p.Ile2490Asn
ENST00000649699.1:c.7346T>A ENSP00000496927.1:p.Ile2449Asn
ENST00000389506.9:c.7460T>A ENSP00000374157.5:p.Ile2487Asn
ENST00000528278.1:n.1596T>A
ENST00000534358.5:c.7469T>A ENSP00000436786.1:p.Ile2490Asn
NM_001197104.1:c.7469T>A , LRG_613t1:c.7469T>A NP_001184033.1:p.Ile2490Asn
NM_005933.3:c.7460T>A NP_005924.2:p.Ile2487Asn
XM_006718839.2:c.4952T>A XP_006718902.2:p.Ile1651Asn
XM_011542829.1:c.7568T>A XP_011541131.1:p.Ile2523Asn
XM_011542830.1:c.7565T>A XP_011541132.1:p.Ile2522Asn
XM_011542831.1:c.7559T>A XP_011541133.1:p.Ile2520Asn
XM_011542832.1:c.5375T>A XP_011541134.1:p.Ile1792Asn
XM_011542833.1:c.5051T>A XP_011541135.1:p.Ile1684Asn
XM_006718839.3:c.4952T>A XP_006718902.2:p.Ile1651Asn
XM_011542829.2:c.7568T>A XP_011541131.1:p.Ile2523Asn
XM_011542830.2:c.7565T>A XP_011541132.1:p.Ile2522Asn
XM_011542831.2:c.7559T>A XP_011541133.1:p.Ile2520Asn
XM_011542833.2:c.5051T>A XP_011541135.1:p.Ile1684Asn
NM_001197104.2:c.7469T>A MANE Select NP_001184033.1:p.Ile2490Asn
NM_005933.4:c.7460T>A NP_005924.2:p.Ile2487Asn