Canonical Allele Identifier: CA382824294
Community Standard Title: NM_001197104.2(KMT2A):c.3341C>G (p.Ser1114Ter)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118477973C>G , CM000673.2:g.118477973C>G GRCh38
NC_000011.9:g.118348688C>G , CM000673.1:g.118348688C>G GRCh37
NC_000011.8:g.117853898C>G NCBI36
NG_027813.1:g.46484C>G , LRG_613:g.46484C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.3341C>G MANE Select NP_001184033.1:p.Ser1114Ter
ENST00000534358.8:c.3341C>G MANE Select ENSP00000436786.2:p.Ser1114Ter
NM_001197104.1:c.3341C>G , LRG_613t1:c.3341C>G NP_001184033.1:p.Ser1114Ter
NM_005933.3:c.3341C>G NP_005924.2:p.Ser1114Ter
NM_005933.4:c.3341C>G NP_005924.2:p.Ser1114Ter
ENST00000389506.10:c.3341C>G ENSP00000374157.5:p.Ser1114Ter
ENST00000389506.9:c.3341C>G ENSP00000374157.5:p.Ser1114Ter
ENST00000527869.7:c.923C>G ENSP00000432652.3:p.Ser308Ter
ENST00000531904.6:c.3440C>G ENSP00000432391.2:p.Ser1147Ter
ENST00000531904.7:c.3440C>G ENSP00000432391.3:p.Ser1147Ter
ENST00000533790.1:c.575C>G ENSP00000436700.1:p.Ser192Ter
ENST00000533790.2:c.593C>G ENSP00000436700.2:p.Ser198Ter
ENST00000533790.3:c.824C>G ENSP00000436700.3:p.Ser275Ter
ENST00000534358.5:c.3341C>G ENSP00000436786.1:p.Ser1114Ter
ENST00000648261.1:c.2111C>G ENSP00000498126.1:p.Ser704Ter
ENST00000649690.2:c.1148C>G ENSP00000497372.2:p.Ser383Ter
ENST00000649699.1:c.3341C>G ENSP00000496927.1:p.Ser1114Ter
ENST00000685719.1:c.322C>G
ENST00000691053.1:c.3341C>G ENSP00000509168.1:p.Ser1114Ter
ENST00000710560.1:c.3440C>G ENSP00000518343.1:p.Ser1147Ter
XM_006718839.2:c.824C>G XP_006718902.2:p.Ser275Ter
XM_006718839.3:c.824C>G XP_006718902.2:p.Ser275Ter
XM_011542829.1:c.3440C>G XP_011541131.1:p.Ser1147Ter
XM_011542829.2:c.3440C>G XP_011541131.1:p.Ser1147Ter
XM_011542830.1:c.3440C>G XP_011541132.1:p.Ser1147Ter
XM_011542830.2:c.3440C>G XP_011541132.1:p.Ser1147Ter
XM_011542831.1:c.3440C>G XP_011541133.1:p.Ser1147Ter
XM_011542831.2:c.3440C>G XP_011541133.1:p.Ser1147Ter
XM_011542832.1:c.1247C>G XP_011541134.1:p.Ser416Ter
XM_011542833.1:c.923C>G XP_011541135.1:p.Ser308Ter
XM_011542833.2:c.923C>G XP_011541135.1:p.Ser308Ter