Canonical Allele Identifier: CA382832515
Community Standard Title: NM_001197104.2(KMT2A):c.4422G>A (p.Trp1474Ter)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118488703G>A , CM000673.2:g.118488703G>A GRCh38
NC_000011.9:g.118359418G>A , CM000673.1:g.118359418G>A GRCh37
NC_000011.8:g.117864628G>A NCBI36
NG_027813.1:g.57214G>A , LRG_613:g.57214G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.4422G>A MANE Select NP_001184033.1:p.Trp1474Ter
ENST00000534358.8:c.4422G>A MANE Select ENSP00000436786.2:p.Trp1474Ter
NM_001197104.1:c.4422G>A , LRG_613t1:c.4422G>A NP_001184033.1:p.Trp1474Ter
NM_005933.3:c.4422G>A NP_005924.2:p.Trp1474Ter
NM_005933.4:c.4422G>A NP_005924.2:p.Trp1474Ter
ENST00000389506.10:c.4422G>A ENSP00000374157.5:p.Trp1474Ter
ENST00000389506.9:c.4422G>A ENSP00000374157.5:p.Trp1474Ter
ENST00000392873.3:c.558G>A ENSP00000376612.3:p.Trp186Ter
ENST00000420751.4:c.333G>A ENSP00000510776.1:p.Trp111Ter
ENST00000531904.7:c.4521G>A ENSP00000432391.3:p.Trp1507Ter
ENST00000534358.5:c.4422G>A ENSP00000436786.1:p.Trp1474Ter
ENST00000649699.1:c.4308G>A ENSP00000496927.1:p.Trp1436Ter
ENST00000685498.1:c.201G>A ENSP00000509293.1:p.Trp67Ter
ENST00000691053.1:c.4422G>A ENSP00000509168.1:p.Trp1474Ter
ENST00000710560.1:c.4521G>A ENSP00000518343.1:p.Trp1507Ter
XM_006718839.2:c.1905G>A XP_006718902.2:p.Trp635Ter
XM_006718839.3:c.1905G>A XP_006718902.2:p.Trp635Ter
XM_011542829.1:c.4521G>A XP_011541131.1:p.Trp1507Ter
XM_011542829.2:c.4521G>A XP_011541131.1:p.Trp1507Ter
XM_011542830.1:c.4521G>A XP_011541132.1:p.Trp1507Ter
XM_011542830.2:c.4521G>A XP_011541132.1:p.Trp1507Ter
XM_011542831.1:c.4521G>A XP_011541133.1:p.Trp1507Ter
XM_011542831.2:c.4521G>A XP_011541133.1:p.Trp1507Ter
XM_011542832.1:c.2328G>A XP_011541134.1:p.Trp776Ter
XM_011542833.1:c.2004G>A XP_011541135.1:p.Trp668Ter
XM_011542833.2:c.2004G>A XP_011541135.1:p.Trp668Ter