Canonical Allele Identifier: CA382804839
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503139T>A , CM000673.2:g.118503139T>A GRCh38
NC_000011.9:g.118373854T>A , CM000673.1:g.118373854T>A GRCh37
NC_000011.8:g.117879064T>A NCBI36
NG_027813.1:g.71650T>A , LRG_613:g.71650T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7346T>A ENSP00000432391.3:p.Ile2449Asn
ENST00000710560.1:c.7337T>A ENSP00000518343.1:p.Ile2446Asn
ENST00000649878.2:c.1286T>A ENSP00000497891.2:p.Ile429Asn
ENST00000685397.1:c.1286T>A ENSP00000509586.1:p.Ile429Asn
ENST00000686370.1:c.1286T>A ENSP00000509179.1:p.Ile429Asn
ENST00000689424.1:c.1544T>A ENSP00000509852.1:p.Ile515Asn
ENST00000691053.1:c.7319T>A ENSP00000509168.1:p.Ile2440Asn
ENST00000389506.10:c.7238T>A ENSP00000374157.5:p.Ile2413Asn
ENST00000528278.2:n.6589T>A
ENST00000534358.8:c.7247T>A MANE Select ENSP00000436786.2:p.Ile2416Asn
ENST00000649699.1:c.7124T>A ENSP00000496927.1:p.Ile2375Asn
ENST00000389506.9:c.7238T>A ENSP00000374157.5:p.Ile2413Asn
ENST00000528278.1:n.1374T>A
ENST00000534358.5:c.7247T>A ENSP00000436786.1:p.Ile2416Asn
NM_001197104.1:c.7247T>A , LRG_613t1:c.7247T>A NP_001184033.1:p.Ile2416Asn
NM_005933.3:c.7238T>A NP_005924.2:p.Ile2413Asn
XM_006718839.2:c.4730T>A XP_006718902.2:p.Ile1577Asn
XM_011542829.1:c.7346T>A XP_011541131.1:p.Ile2449Asn
XM_011542830.1:c.7343T>A XP_011541132.1:p.Ile2448Asn
XM_011542831.1:c.7337T>A XP_011541133.1:p.Ile2446Asn
XM_011542832.1:c.5153T>A XP_011541134.1:p.Ile1718Asn
XM_011542833.1:c.4829T>A XP_011541135.1:p.Ile1610Asn
XM_006718839.3:c.4730T>A XP_006718902.2:p.Ile1577Asn
XM_011542829.2:c.7346T>A XP_011541131.1:p.Ile2449Asn
XM_011542830.2:c.7343T>A XP_011541132.1:p.Ile2448Asn
XM_011542831.2:c.7337T>A XP_011541133.1:p.Ile2446Asn
XM_011542833.2:c.4829T>A XP_011541135.1:p.Ile1610Asn
NM_001197104.2:c.7247T>A MANE Select NP_001184033.1:p.Ile2416Asn
NM_005933.4:c.7238T>A NP_005924.2:p.Ile2413Asn