Canonical Allele Identifier: CA2003512030
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118480219C= , CM000673.2:g.118480219C= GRCh38
NC_000011.9:g.118350934C= , CM000673.1:g.118350934C= GRCh37
NC_000011.8:g.117856144C= NCBI36
NG_027813.1:g.48730C= , LRG_613:g.48730C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.3714C= ENSP00000432391.3:p.Tyr1238=
ENST00000710560.1:c.3714C= ENSP00000518343.1:p.Tyr1238=
ENST00000527869.7:c.1197C= ENSP00000432652.3:p.Tyr399=
ENST00000533790.3:c.1098C= ENSP00000436700.3:p.Tyr366=
ENST00000649690.2:c.1422C= ENSP00000497372.2:p.Tyr474=
ENST00000685719.1:c.596C=
ENST00000691053.1:c.3615C= ENSP00000509168.1:p.Tyr1205=
ENST00000389506.10:c.3615C= ENSP00000374157.5:p.Tyr1205=
ENST00000533790.2:c.867C= ENSP00000436700.2:p.Tyr289=
ENST00000534358.8:c.3615C= MANE Select ENSP00000436786.2:p.Tyr1205=
ENST00000648261.1:c.2385C= ENSP00000498126.1:p.Tyr795=
ENST00000649699.1:c.3615C= ENSP00000496927.1:p.Tyr1205=
ENST00000389506.9:c.3615C= ENSP00000374157.5:p.Tyr1205=
ENST00000531904.6:c.3714C= ENSP00000432391.2:p.Tyr1238=
ENST00000534358.5:c.3615C= ENSP00000436786.1:p.Tyr1205=
NM_001197104.1:c.3615C= , LRG_613t1:c.3615C= NP_001184033.1:p.Tyr1205=
NM_005933.3:c.3615C= NP_005924.2:p.Tyr1205=
XM_006718839.2:c.1098C= XP_006718902.2:p.Tyr366=
XM_011542829.1:c.3714C= XP_011541131.1:p.Tyr1238=
XM_011542830.1:c.3714C= XP_011541132.1:p.Tyr1238=
XM_011542831.1:c.3714C= XP_011541133.1:p.Tyr1238=
XM_011542832.1:c.1521C= XP_011541134.1:p.Tyr507=
XM_011542833.1:c.1197C= XP_011541135.1:p.Tyr399=
XM_006718839.3:c.1098C= XP_006718902.2:p.Tyr366=
XM_011542829.2:c.3714C= XP_011541131.1:p.Tyr1238=
XM_011542830.2:c.3714C= XP_011541132.1:p.Tyr1238=
XM_011542831.2:c.3714C= XP_011541133.1:p.Tyr1238=
XM_011542833.2:c.1197C= XP_011541135.1:p.Tyr399=
NM_001197104.2:c.3615C= MANE Select NP_001184033.1:p.Tyr1205=
NM_005933.4:c.3615C= NP_005924.2:p.Tyr1205=