Canonical Allele Identifier: CA6304413

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2191058
• ClinVar RCV Id: RCV002616714 ; RCV003349057
• dbSNP Id: rs540886080
• ExAC: 11:118374168 C / T
• gnomAD v2: 11-118374168-C-T
• gnomAD v3: 11-118503453-C-T
• gnomAD v4: 11-118503453-C-T
• MyVariant Identifiers: chr11:g.118374168C>T (hg19) ; chr11:g.118503453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503453C>T , CM000673.2:g.118503453C>T	GRCh38
NC_000011.9:g.118374168C>T , CM000673.1:g.118374168C>T	GRCh37
NC_000011.8:g.117879378C>T	NCBI36
NG_027813.1:g.71964C>T , LRG_613:g.71964C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7660C>T	ENSP00000432391.3:p.Arg2554Cys
ENST00000710560.1:c.7651C>T	ENSP00000518343.1:p.Arg2551Cys
ENST00000649878.2:c.1600C>T	ENSP00000497891.2:p.Arg534Cys
ENST00000685397.1:c.1600C>T	ENSP00000509586.1:p.Arg534Cys
ENST00000686370.1:c.1600C>T	ENSP00000509179.1:p.Arg534Cys
ENST00000689424.1:c.1858C>T	ENSP00000509852.1:p.Arg620Cys
ENST00000691053.1:c.7633C>T	ENSP00000509168.1:p.Arg2545Cys
ENST00000389506.10:c.7552C>T	ENSP00000374157.5:p.Arg2518Cys
ENST00000528278.2:n.6903C>T
ENST00000534358.8:c.7561C>T MANE Select	ENSP00000436786.2:p.Arg2521Cys
ENST00000649699.1:c.7438C>T	ENSP00000496927.1:p.Arg2480Cys
ENST00000389506.9:c.7552C>T	ENSP00000374157.5:p.Arg2518Cys
ENST00000528278.1:n.1688C>T
ENST00000534358.5:c.7561C>T	ENSP00000436786.1:p.Arg2521Cys
NM_001197104.1:c.7561C>T , LRG_613t1:c.7561C>T	NP_001184033.1:p.Arg2521Cys
NM_005933.3:c.7552C>T	NP_005924.2:p.Arg2518Cys
XM_006718839.2:c.5044C>T	XP_006718902.2:p.Arg1682Cys
XM_011542829.1:c.7660C>T	XP_011541131.1:p.Arg2554Cys
XM_011542830.1:c.7657C>T	XP_011541132.1:p.Arg2553Cys
XM_011542831.1:c.7651C>T	XP_011541133.1:p.Arg2551Cys
XM_011542832.1:c.5467C>T	XP_011541134.1:p.Arg1823Cys
XM_011542833.1:c.5143C>T	XP_011541135.1:p.Arg1715Cys
XM_006718839.3:c.5044C>T	XP_006718902.2:p.Arg1682Cys
XM_011542829.2:c.7660C>T	XP_011541131.1:p.Arg2554Cys
XM_011542830.2:c.7657C>T	XP_011541132.1:p.Arg2553Cys
XM_011542831.2:c.7651C>T	XP_011541133.1:p.Arg2551Cys
XM_011542833.2:c.5143C>T	XP_011541135.1:p.Arg1715Cys
NM_001197104.2:c.7561C>T MANE Select	NP_001184033.1:p.Arg2521Cys
NM_005933.4:c.7552C>T	NP_005924.2:p.Arg2518Cys