Canonical Allele Identifier: CA382805478

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118374019T>A (hg19) ; chr11:g.118503304T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503304T>A , CM000673.2:g.118503304T>A	GRCh38
NC_000011.9:g.118374019T>A , CM000673.1:g.118374019T>A	GRCh37
NC_000011.8:g.117879229T>A	NCBI36
NG_027813.1:g.71815T>A , LRG_613:g.71815T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7511T>A	ENSP00000432391.3:p.Val2504Asp
ENST00000710560.1:c.7502T>A	ENSP00000518343.1:p.Val2501Asp
ENST00000649878.2:c.1451T>A	ENSP00000497891.2:p.Val484Asp
ENST00000685397.1:c.1451T>A	ENSP00000509586.1:p.Val484Asp
ENST00000686370.1:c.1451T>A	ENSP00000509179.1:p.Val484Asp
ENST00000689424.1:c.1709T>A	ENSP00000509852.1:p.Val570Asp
ENST00000691053.1:c.7484T>A	ENSP00000509168.1:p.Val2495Asp
ENST00000389506.10:c.7403T>A	ENSP00000374157.5:p.Val2468Asp
ENST00000528278.2:n.6754T>A
ENST00000534358.8:c.7412T>A MANE Select	ENSP00000436786.2:p.Val2471Asp
ENST00000649699.1:c.7289T>A	ENSP00000496927.1:p.Val2430Asp
ENST00000389506.9:c.7403T>A	ENSP00000374157.5:p.Val2468Asp
ENST00000528278.1:n.1539T>A
ENST00000534358.5:c.7412T>A	ENSP00000436786.1:p.Val2471Asp
NM_001197104.1:c.7412T>A , LRG_613t1:c.7412T>A	NP_001184033.1:p.Val2471Asp
NM_005933.3:c.7403T>A	NP_005924.2:p.Val2468Asp
XM_006718839.2:c.4895T>A	XP_006718902.2:p.Val1632Asp
XM_011542829.1:c.7511T>A	XP_011541131.1:p.Val2504Asp
XM_011542830.1:c.7508T>A	XP_011541132.1:p.Val2503Asp
XM_011542831.1:c.7502T>A	XP_011541133.1:p.Val2501Asp
XM_011542832.1:c.5318T>A	XP_011541134.1:p.Val1773Asp
XM_011542833.1:c.4994T>A	XP_011541135.1:p.Val1665Asp
XM_006718839.3:c.4895T>A	XP_006718902.2:p.Val1632Asp
XM_011542829.2:c.7511T>A	XP_011541131.1:p.Val2504Asp
XM_011542830.2:c.7508T>A	XP_011541132.1:p.Val2503Asp
XM_011542831.2:c.7502T>A	XP_011541133.1:p.Val2501Asp
XM_011542833.2:c.4994T>A	XP_011541135.1:p.Val1665Asp
NM_001197104.2:c.7412T>A MANE Select	NP_001184033.1:p.Val2471Asp
NM_005933.4:c.7403T>A	NP_005924.2:p.Val2468Asp