Canonical Allele Identifier: CA382802657
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502570T>A , CM000673.2:g.118502570T>A GRCh38
NC_000011.9:g.118373285T>A , CM000673.1:g.118373285T>A GRCh37
NC_000011.8:g.117878495T>A NCBI36
NG_027813.1:g.71081T>A , LRG_613:g.71081T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.6777T>A ENSP00000432391.3:p.Asn2259Lys
ENST00000710560.1:c.6768T>A ENSP00000518343.1:p.Asn2256Lys
ENST00000649878.2:c.717T>A ENSP00000497891.2:p.Asn239Lys
ENST00000685397.1:c.717T>A ENSP00000509586.1:p.Asn239Lys
ENST00000686370.1:c.717T>A ENSP00000509179.1:p.Asn239Lys
ENST00000689424.1:c.975T>A ENSP00000509852.1:p.Asn325Lys
ENST00000691053.1:c.6750T>A ENSP00000509168.1:p.Asn2250Lys
ENST00000389506.10:c.6669T>A ENSP00000374157.5:p.Asn2223Lys
ENST00000528278.2:n.6020T>A
ENST00000534358.8:c.6678T>A MANE Select ENSP00000436786.2:p.Asn2226Lys
ENST00000649699.1:c.6555T>A ENSP00000496927.1:p.Asn2185Lys
ENST00000389506.9:c.6669T>A ENSP00000374157.5:p.Asn2223Lys
ENST00000528278.1:n.805T>A
ENST00000534358.5:c.6678T>A ENSP00000436786.1:p.Asn2226Lys
NM_001197104.1:c.6678T>A , LRG_613t1:c.6678T>A NP_001184033.1:p.Asn2226Lys
NM_005933.3:c.6669T>A NP_005924.2:p.Asn2223Lys
XM_006718839.2:c.4161T>A XP_006718902.2:p.Asn1387Lys
XM_011542829.1:c.6777T>A XP_011541131.1:p.Asn2259Lys
XM_011542830.1:c.6774T>A XP_011541132.1:p.Asn2258Lys
XM_011542831.1:c.6768T>A XP_011541133.1:p.Asn2256Lys
XM_011542832.1:c.4584T>A XP_011541134.1:p.Asn1528Lys
XM_011542833.1:c.4260T>A XP_011541135.1:p.Asn1420Lys
XM_006718839.3:c.4161T>A XP_006718902.2:p.Asn1387Lys
XM_011542829.2:c.6777T>A XP_011541131.1:p.Asn2259Lys
XM_011542830.2:c.6774T>A XP_011541132.1:p.Asn2258Lys
XM_011542831.2:c.6768T>A XP_011541133.1:p.Asn2256Lys
XM_011542833.2:c.4260T>A XP_011541135.1:p.Asn1420Lys
NM_001197104.2:c.6678T>A MANE Select NP_001184033.1:p.Asn2226Lys
NM_005933.4:c.6669T>A NP_005924.2:p.Asn2223Lys