Canonical Allele Identifier: CA6304380

Gene: KMT2A

Linked Data

• dbSNP Id: rs782455453
• ExAC: 11:118373871 G / A
• gnomAD v2: 11-118373871-G-A
• gnomAD v4: 11-118503156-G-A
• MyVariant Identifiers: chr11:g.118373871G>A (hg19) ; chr11:g.118503156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503156G>A , CM000673.2:g.118503156G>A	GRCh38
NC_000011.9:g.118373871G>A , CM000673.1:g.118373871G>A	GRCh37
NC_000011.8:g.117879081G>A	NCBI36
NG_027813.1:g.71667G>A , LRG_613:g.71667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7363G>A	ENSP00000432391.3:p.Gly2455Arg
ENST00000710560.1:c.7354G>A	ENSP00000518343.1:p.Gly2452Arg
ENST00000649878.2:c.1303G>A	ENSP00000497891.2:p.Gly435Arg
ENST00000685397.1:c.1303G>A	ENSP00000509586.1:p.Gly435Arg
ENST00000686370.1:c.1303G>A	ENSP00000509179.1:p.Gly435Arg
ENST00000689424.1:c.1561G>A	ENSP00000509852.1:p.Gly521Arg
ENST00000691053.1:c.7336G>A	ENSP00000509168.1:p.Gly2446Arg
ENST00000389506.10:c.7255G>A	ENSP00000374157.5:p.Gly2419Arg
ENST00000528278.2:n.6606G>A
ENST00000534358.8:c.7264G>A MANE Select	ENSP00000436786.2:p.Gly2422Arg
ENST00000649699.1:c.7141G>A	ENSP00000496927.1:p.Gly2381Arg
ENST00000389506.9:c.7255G>A	ENSP00000374157.5:p.Gly2419Arg
ENST00000528278.1:n.1391G>A
ENST00000534358.5:c.7264G>A	ENSP00000436786.1:p.Gly2422Arg
NM_001197104.1:c.7264G>A , LRG_613t1:c.7264G>A	NP_001184033.1:p.Gly2422Arg
NM_005933.3:c.7255G>A	NP_005924.2:p.Gly2419Arg
XM_006718839.2:c.4747G>A	XP_006718902.2:p.Gly1583Arg
XM_011542829.1:c.7363G>A	XP_011541131.1:p.Gly2455Arg
XM_011542830.1:c.7360G>A	XP_011541132.1:p.Gly2454Arg
XM_011542831.1:c.7354G>A	XP_011541133.1:p.Gly2452Arg
XM_011542832.1:c.5170G>A	XP_011541134.1:p.Gly1724Arg
XM_011542833.1:c.4846G>A	XP_011541135.1:p.Gly1616Arg
XM_006718839.3:c.4747G>A	XP_006718902.2:p.Gly1583Arg
XM_011542829.2:c.7363G>A	XP_011541131.1:p.Gly2455Arg
XM_011542830.2:c.7360G>A	XP_011541132.1:p.Gly2454Arg
XM_011542831.2:c.7354G>A	XP_011541133.1:p.Gly2452Arg
XM_011542833.2:c.4846G>A	XP_011541135.1:p.Gly1616Arg
NM_001197104.2:c.7264G>A MANE Select	NP_001184033.1:p.Gly2422Arg
NM_005933.4:c.7255G>A	NP_005924.2:p.Gly2419Arg