Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118521286A>C , CM000673.2:g.118521286A>C	GRCh38
NC_000011.9:g.118392001A>C , CM000673.1:g.118392001A>C	GRCh37
NC_000011.8:g.117897211A>C	NCBI36
NG_027813.1:g.89797A>C , LRG_613:g.89797A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.11514-2A>C (KMT2A) MANE Select	NP_001184033.1:n.11514-2A>C
ENST00000534358.8:c.11514-2A>C (KMT2A) MANE Select	ENSP00000436786.2:n.11514-2A>C
NM_001197104.1:c.11514-2A>C , LRG_613t1:c.11514-2A>C (KMT2A)	NP_001184033.1:n.11514-2A>C
NM_005933.3:c.11505-2A>C (KMT2A)	NP_005924.2:n.11505-2A>C
NM_005933.4:c.11505-2A>C (KMT2A)	NP_005924.2:n.11505-2A>C
NR_120572.1:n.408T>G (TTC36-AS1)
NR_120573.1:n.301T>G (TTC36-AS1)
NR_120574.1:n.301T>G (TTC36-AS1)
NR_120575.1:n.301T>G (TTC36-AS1)
NR_120576.1:n.133T>G (TTC36-AS1)
ENST00000389506.10:c.11505-2A>C (KMT2A)	ENSP00000374157.5:n.11505-2A>C
ENST00000389506.9:c.11505-2A>C (KMT2A)	ENSP00000374157.5:n.11505-2A>C
ENST00000525408.1:n.427-2A>C (KMT2A)
ENST00000525408.2:n.429-2A>C (KMT2A)
ENST00000527839.1:n.1452A>C (KMT2A)
ENST00000527839.2:n.1014-2A>C (KMT2A)
ENST00000531904.7:c.11613-2A>C (KMT2A)	ENSP00000432391.3:n.11613-2A>C
ENST00000534358.5:c.11514-2A>C (KMT2A)	ENSP00000436786.1:n.11514-2A>C
ENST00000648565.1:n.750-2A>C (KMT2A)
ENST00000649699.1:c.11391-2A>C (KMT2A)	ENSP00000496927.1:n.11391-2A>C
ENST00000686588.1:c.610-2A>C (KMT2A)
ENST00000691053.1:c.11586-2A>C (KMT2A)	ENSP00000509168.1:n.11586-2A>C
ENST00000710560.1:c.11604-2A>C (KMT2A)	ENSP00000518343.1:n.11604-2A>C
XM_006718839.2:c.8997-2A>C (KMT2A)	XP_006718902.2:n.8997-2A>C
XM_006718839.3:c.8997-2A>C (KMT2A)	XP_006718902.2:n.8997-2A>C
XM_011542829.1:c.11613-2A>C (KMT2A)	XP_011541131.1:n.11613-2A>C
XM_011542829.2:c.11613-2A>C (KMT2A)	XP_011541131.1:n.11613-2A>C
XM_011542830.1:c.11610-2A>C (KMT2A)	XP_011541132.1:n.11610-2A>C
XM_011542830.2:c.11610-2A>C (KMT2A)	XP_011541132.1:n.11610-2A>C
XM_011542831.1:c.11604-2A>C (KMT2A)	XP_011541133.1:n.11604-2A>C
XM_011542831.2:c.11604-2A>C (KMT2A)	XP_011541133.1:n.11604-2A>C
XM_011542832.1:c.9420-2A>C (KMT2A)	XP_011541134.1:n.9420-2A>C
XM_011542833.1:c.9096-2A>C (KMT2A)	XP_011541135.1:n.9096-2A>C
XM_011542833.2:c.9096-2A>C (KMT2A)	XP_011541135.1:n.9096-2A>C