Canonical Allele Identifier: CA382803778
Community Standard Title: NM_001197104.2(KMT2A):c.502+1G>A
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118468845G>A , CM000673.2:g.118468845G>A GRCh38
NC_000011.9:g.118339560G>A , CM000673.1:g.118339560G>A GRCh37
NC_000011.8:g.117844770G>A NCBI36
NG_027813.1:g.37356G>A , LRG_613:g.37356G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.502+1G>A MANE Select NP_001184033.1:n.502+1G>A
ENST00000534358.8:c.502+1G>A MANE Select ENSP00000436786.2:n.502+1G>A
NM_001197104.1:c.502+1G>A , LRG_613t1:c.502+1G>A NP_001184033.1:n.502+1G>A
NM_005933.3:c.502+1G>A NP_005924.2:n.502+1G>A
NM_005933.4:c.502+1G>A NP_005924.2:n.502+1G>A
ENST00000389506.10:c.502+1G>A ENSP00000374157.5:n.502+1G>A
ENST00000389506.9:c.502+1G>A ENSP00000374157.5:n.502+1G>A
ENST00000527869.6:c.352+1G>A ENSP00000432652.2:n.352+1G>A
ENST00000527869.7:c.601+1G>A ENSP00000432652.3:n.601+1G>A
ENST00000531904.6:c.601+1G>A ENSP00000432391.2:n.601+1G>A
ENST00000531904.7:c.601+1G>A ENSP00000432391.3:n.601+1G>A
ENST00000533790.1:c.253+1G>A ENSP00000436700.1:n.253+1G>A
ENST00000533790.2:c.271+1G>A ENSP00000436700.2:n.271+1G>A
ENST00000533790.3:c.502+1G>A ENSP00000436700.3:n.502+1G>A
ENST00000534358.5:c.502+1G>A ENSP00000436786.1:n.502+1G>A
ENST00000648029.1:n.84G>A
ENST00000648261.1:c.-729+1G>A ENSP00000498126.1:n.-729+1G>A
ENST00000648910.1:n.1294+1G>A
ENST00000649690.1:c.88+1G>A ENSP00000497372.1:n.88+1G>A
ENST00000649690.2:c.502+1G>A ENSP00000497372.2:n.502+1G>A
ENST00000649699.1:c.502+1G>A ENSP00000496927.1:n.502+1G>A
ENST00000691053.1:c.502+1G>A ENSP00000509168.1:n.502+1G>A
ENST00000710560.1:c.601+1G>A ENSP00000518343.1:n.601+1G>A
XM_006718839.2:c.502+1G>A XP_006718902.2:n.502+1G>A
XM_006718839.3:c.502+1G>A XP_006718902.2:n.502+1G>A
XM_011542829.1:c.601+1G>A XP_011541131.1:n.601+1G>A
XM_011542829.2:c.601+1G>A XP_011541131.1:n.601+1G>A
XM_011542830.1:c.601+1G>A XP_011541132.1:n.601+1G>A
XM_011542830.2:c.601+1G>A XP_011541132.1:n.601+1G>A
XM_011542831.1:c.601+1G>A XP_011541133.1:n.601+1G>A
XM_011542831.2:c.601+1G>A XP_011541133.1:n.601+1G>A
XM_011542832.1:c.601+1G>A XP_011541134.1:n.601+1G>A
XM_011542833.1:c.601+1G>A XP_011541135.1:n.601+1G>A
XM_011542833.2:c.601+1G>A XP_011541135.1:n.601+1G>A