Canonical Allele Identifier: CA2580083615

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1705262
• ClinVar RCV Id: RCV002281892

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503194dup , CM000673.2:g.118503194dup	GRCh38
NC_000011.9:g.118373909dup , CM000673.1:g.118373909dup	GRCh37
NC_000011.8:g.117879119dup	NCBI36
NG_027813.1:g.71705dup , LRG_613:g.71705dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7401dup	ENSP00000432391.3:p.Ser2468IlefsTer3
ENST00000710560.1:c.7392dup	ENSP00000518343.1:p.Ser2465IlefsTer3
ENST00000649878.2:c.1341dup	ENSP00000497891.2:p.Ser448IlefsTer3
ENST00000685397.1:c.1341dup	ENSP00000509586.1:p.Ser448IlefsTer3
ENST00000686370.1:c.1341dup	ENSP00000509179.1:p.Ser448IlefsTer3
ENST00000689424.1:c.1599dup	ENSP00000509852.1:p.Ser534IlefsTer3
ENST00000691053.1:c.7374dup	ENSP00000509168.1:p.Ser2459IlefsTer3
ENST00000389506.10:c.7293dup	ENSP00000374157.5:p.Ser2432IlefsTer3
ENST00000528278.2:n.6644dup
ENST00000534358.8:c.7302dup MANE Select	ENSP00000436786.2:p.Ser2435IlefsTer3
ENST00000649699.1:c.7179dup	ENSP00000496927.1:p.Ser2394IlefsTer3
ENST00000389506.9:c.7293dup	ENSP00000374157.5:p.Ser2432IlefsTer3
ENST00000528278.1:n.1429dup
ENST00000534358.5:c.7302dup	ENSP00000436786.1:p.Ser2435IlefsTer3
NM_001197104.1:c.7302dup , LRG_613t1:c.7302dup	NP_001184033.1:p.Ser2435IlefsTer3
NM_005933.3:c.7293dup	NP_005924.2:p.Ser2432IlefsTer3
XM_006718839.2:c.4785dup	XP_006718902.2:p.Ser1596IlefsTer3
XM_011542829.1:c.7401dup	XP_011541131.1:p.Ser2468IlefsTer3
XM_011542830.1:c.7398dup	XP_011541132.1:p.Ser2467IlefsTer3
XM_011542831.1:c.7392dup	XP_011541133.1:p.Ser2465IlefsTer3
XM_011542832.1:c.5208dup	XP_011541134.1:p.Ser1737IlefsTer3
XM_011542833.1:c.4884dup	XP_011541135.1:p.Ser1629IlefsTer3
XM_006718839.3:c.4785dup	XP_006718902.2:p.Ser1596IlefsTer3
XM_011542829.2:c.7401dup	XP_011541131.1:p.Ser2468IlefsTer3
XM_011542830.2:c.7398dup	XP_011541132.1:p.Ser2467IlefsTer3
XM_011542831.2:c.7392dup	XP_011541133.1:p.Ser2465IlefsTer3
XM_011542833.2:c.4884dup	XP_011541135.1:p.Ser1629IlefsTer3
NM_001197104.2:c.7302dup MANE Select	NP_001184033.1:p.Ser2435IlefsTer3
NM_005933.4:c.7293dup	NP_005924.2:p.Ser2432IlefsTer3