Canonical Allele Identifier: CA382834222
Community Standard Title: NM_001197104.2(KMT2A):c.4696G>C (p.Gly1566Arg)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118490249G>C , CM000673.2:g.118490249G>C GRCh38
NC_000011.9:g.118360964G>C , CM000673.1:g.118360964G>C GRCh37
NC_000011.8:g.117866174G>C NCBI36
NG_027813.1:g.58760G>C , LRG_613:g.58760G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.4696G>C MANE Select NP_001184033.1:p.Gly1566Arg
ENST00000534358.8:c.4696G>C MANE Select ENSP00000436786.2:p.Gly1566Arg
NM_001197104.1:c.4696G>C , LRG_613t1:c.4696G>C NP_001184033.1:p.Gly1566Arg
NM_005933.3:c.4696G>C NP_005924.2:p.Gly1566Arg
NM_005933.4:c.4696G>C NP_005924.2:p.Gly1566Arg
ENST00000389506.10:c.4696G>C ENSP00000374157.5:p.Gly1566Arg
ENST00000389506.9:c.4696G>C ENSP00000374157.5:p.Gly1566Arg
ENST00000392873.3:c.832G>C ENSP00000376612.3:p.Gly278Arg
ENST00000531904.7:c.4795G>C ENSP00000432391.3:p.Gly1599Arg
ENST00000534358.5:c.4696G>C ENSP00000436786.1:p.Gly1566Arg
ENST00000649699.1:c.4582G>C ENSP00000496927.1:p.Gly1528Arg
ENST00000685498.1:c.472G>C ENSP00000509293.1:p.Gly158Arg
ENST00000691053.1:c.4696G>C ENSP00000509168.1:p.Gly1566Arg
ENST00000710560.1:c.4795G>C ENSP00000518343.1:p.Gly1599Arg
XM_006718839.2:c.2179G>C XP_006718902.2:p.Gly727Arg
XM_006718839.3:c.2179G>C XP_006718902.2:p.Gly727Arg
XM_011542829.1:c.4795G>C XP_011541131.1:p.Gly1599Arg
XM_011542829.2:c.4795G>C XP_011541131.1:p.Gly1599Arg
XM_011542830.1:c.4792G>C XP_011541132.1:p.Gly1598Arg
XM_011542830.2:c.4792G>C XP_011541132.1:p.Gly1598Arg
XM_011542831.1:c.4795G>C XP_011541133.1:p.Gly1599Arg
XM_011542831.2:c.4795G>C XP_011541133.1:p.Gly1599Arg
XM_011542832.1:c.2602G>C XP_011541134.1:p.Gly868Arg
XM_011542833.1:c.2278G>C XP_011541135.1:p.Gly760Arg
XM_011542833.2:c.2278G>C XP_011541135.1:p.Gly760Arg