Canonical Allele Identifier: CA382804749

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118503112-T-A
• MyVariant Identifiers: chr11:g.118373827T>A (hg19) ; chr11:g.118503112T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503112T>A , CM000673.2:g.118503112T>A	GRCh38
NC_000011.9:g.118373827T>A , CM000673.1:g.118373827T>A	GRCh37
NC_000011.8:g.117879037T>A	NCBI36
NG_027813.1:g.71623T>A , LRG_613:g.71623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7319T>A	ENSP00000432391.3:p.Leu2440Gln
ENST00000710560.1:c.7310T>A	ENSP00000518343.1:p.Leu2437Gln
ENST00000649878.2:c.1259T>A	ENSP00000497891.2:p.Leu420Gln
ENST00000685397.1:c.1259T>A	ENSP00000509586.1:p.Leu420Gln
ENST00000686370.1:c.1259T>A	ENSP00000509179.1:p.Leu420Gln
ENST00000689424.1:c.1517T>A	ENSP00000509852.1:p.Leu506Gln
ENST00000691053.1:c.7292T>A	ENSP00000509168.1:p.Leu2431Gln
ENST00000389506.10:c.7211T>A	ENSP00000374157.5:p.Leu2404Gln
ENST00000528278.2:n.6562T>A
ENST00000534358.8:c.7220T>A MANE Select	ENSP00000436786.2:p.Leu2407Gln
ENST00000649699.1:c.7097T>A	ENSP00000496927.1:p.Leu2366Gln
ENST00000389506.9:c.7211T>A	ENSP00000374157.5:p.Leu2404Gln
ENST00000528278.1:n.1347T>A
ENST00000534358.5:c.7220T>A	ENSP00000436786.1:p.Leu2407Gln
NM_001197104.1:c.7220T>A , LRG_613t1:c.7220T>A	NP_001184033.1:p.Leu2407Gln
NM_005933.3:c.7211T>A	NP_005924.2:p.Leu2404Gln
XM_006718839.2:c.4703T>A	XP_006718902.2:p.Leu1568Gln
XM_011542829.1:c.7319T>A	XP_011541131.1:p.Leu2440Gln
XM_011542830.1:c.7316T>A	XP_011541132.1:p.Leu2439Gln
XM_011542831.1:c.7310T>A	XP_011541133.1:p.Leu2437Gln
XM_011542832.1:c.5126T>A	XP_011541134.1:p.Leu1709Gln
XM_011542833.1:c.4802T>A	XP_011541135.1:p.Leu1601Gln
XM_006718839.3:c.4703T>A	XP_006718902.2:p.Leu1568Gln
XM_011542829.2:c.7319T>A	XP_011541131.1:p.Leu2440Gln
XM_011542830.2:c.7316T>A	XP_011541132.1:p.Leu2439Gln
XM_011542831.2:c.7310T>A	XP_011541133.1:p.Leu2437Gln
XM_011542833.2:c.4802T>A	XP_011541135.1:p.Leu1601Gln
NM_001197104.2:c.7220T>A MANE Select	NP_001184033.1:p.Leu2407Gln
NM_005933.4:c.7211T>A	NP_005924.2:p.Leu2404Gln