Canonical Allele Identifier: CA382805263

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118503254-G-T
• MyVariant Identifiers: chr11:g.118373969G>T (hg19) ; chr11:g.118503254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503254G>T , CM000673.2:g.118503254G>T	GRCh38
NC_000011.9:g.118373969G>T , CM000673.1:g.118373969G>T	GRCh37
NC_000011.8:g.117879179G>T	NCBI36
NG_027813.1:g.71765G>T , LRG_613:g.71765G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7461G>T	ENSP00000432391.3:p.Gln2487His
ENST00000710560.1:c.7452G>T	ENSP00000518343.1:p.Gln2484His
ENST00000649878.2:c.1401G>T	ENSP00000497891.2:p.Gln467His
ENST00000685397.1:c.1401G>T	ENSP00000509586.1:p.Gln467His
ENST00000686370.1:c.1401G>T	ENSP00000509179.1:p.Gln467His
ENST00000689424.1:c.1659G>T	ENSP00000509852.1:p.Gln553His
ENST00000691053.1:c.7434G>T	ENSP00000509168.1:p.Gln2478His
ENST00000389506.10:c.7353G>T	ENSP00000374157.5:p.Gln2451His
ENST00000528278.2:n.6704G>T
ENST00000534358.8:c.7362G>T MANE Select	ENSP00000436786.2:p.Gln2454His
ENST00000649699.1:c.7239G>T	ENSP00000496927.1:p.Gln2413His
ENST00000389506.9:c.7353G>T	ENSP00000374157.5:p.Gln2451His
ENST00000528278.1:n.1489G>T
ENST00000534358.5:c.7362G>T	ENSP00000436786.1:p.Gln2454His
NM_001197104.1:c.7362G>T , LRG_613t1:c.7362G>T	NP_001184033.1:p.Gln2454His
NM_005933.3:c.7353G>T	NP_005924.2:p.Gln2451His
XM_006718839.2:c.4845G>T	XP_006718902.2:p.Gln1615His
XM_011542829.1:c.7461G>T	XP_011541131.1:p.Gln2487His
XM_011542830.1:c.7458G>T	XP_011541132.1:p.Gln2486His
XM_011542831.1:c.7452G>T	XP_011541133.1:p.Gln2484His
XM_011542832.1:c.5268G>T	XP_011541134.1:p.Gln1756His
XM_011542833.1:c.4944G>T	XP_011541135.1:p.Gln1648His
XM_006718839.3:c.4845G>T	XP_006718902.2:p.Gln1615His
XM_011542829.2:c.7461G>T	XP_011541131.1:p.Gln2487His
XM_011542830.2:c.7458G>T	XP_011541132.1:p.Gln2486His
XM_011542831.2:c.7452G>T	XP_011541133.1:p.Gln2484His
XM_011542833.2:c.4944G>T	XP_011541135.1:p.Gln1648His
NM_001197104.2:c.7362G>T MANE Select	NP_001184033.1:p.Gln2454His
NM_005933.4:c.7353G>T	NP_005924.2:p.Gln2451His