Canonical Allele Identifier: CA382805568
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503327C>T , CM000673.2:g.118503327C>T GRCh38
NC_000011.9:g.118374042C>T , CM000673.1:g.118374042C>T GRCh37
NC_000011.8:g.117879252C>T NCBI36
NG_027813.1:g.71838C>T , LRG_613:g.71838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7534C>T ENSP00000432391.3:p.Gln2512Ter
ENST00000710560.1:c.7525C>T ENSP00000518343.1:p.Gln2509Ter
ENST00000649878.2:c.1474C>T ENSP00000497891.2:p.Gln492Ter
ENST00000685397.1:c.1474C>T ENSP00000509586.1:p.Gln492Ter
ENST00000686370.1:c.1474C>T ENSP00000509179.1:p.Gln492Ter
ENST00000689424.1:c.1732C>T ENSP00000509852.1:p.Gln578Ter
ENST00000691053.1:c.7507C>T ENSP00000509168.1:p.Gln2503Ter
ENST00000389506.10:c.7426C>T ENSP00000374157.5:p.Gln2476Ter
ENST00000528278.2:n.6777C>T
ENST00000534358.8:c.7435C>T MANE Select ENSP00000436786.2:p.Gln2479Ter
ENST00000649699.1:c.7312C>T ENSP00000496927.1:p.Gln2438Ter
ENST00000389506.9:c.7426C>T ENSP00000374157.5:p.Gln2476Ter
ENST00000528278.1:n.1562C>T
ENST00000534358.5:c.7435C>T ENSP00000436786.1:p.Gln2479Ter
NM_001197104.1:c.7435C>T , LRG_613t1:c.7435C>T NP_001184033.1:p.Gln2479Ter
NM_005933.3:c.7426C>T NP_005924.2:p.Gln2476Ter
XM_006718839.2:c.4918C>T XP_006718902.2:p.Gln1640Ter
XM_011542829.1:c.7534C>T XP_011541131.1:p.Gln2512Ter
XM_011542830.1:c.7531C>T XP_011541132.1:p.Gln2511Ter
XM_011542831.1:c.7525C>T XP_011541133.1:p.Gln2509Ter
XM_011542832.1:c.5341C>T XP_011541134.1:p.Gln1781Ter
XM_011542833.1:c.5017C>T XP_011541135.1:p.Gln1673Ter
XM_006718839.3:c.4918C>T XP_006718902.2:p.Gln1640Ter
XM_011542829.2:c.7534C>T XP_011541131.1:p.Gln2512Ter
XM_011542830.2:c.7531C>T XP_011541132.1:p.Gln2511Ter
XM_011542831.2:c.7525C>T XP_011541133.1:p.Gln2509Ter
XM_011542833.2:c.5017C>T XP_011541135.1:p.Gln1673Ter
NM_001197104.2:c.7435C>T MANE Select NP_001184033.1:p.Gln2479Ter
NM_005933.4:c.7426C>T NP_005924.2:p.Gln2476Ter