Canonical Allele Identifier: CA382806018

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118503453-C-A
• MyVariant Identifiers: chr11:g.118374168C>A (hg19) ; chr11:g.118503453C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7660C>A	ENSP00000432391.3:p.Arg2554Ser
ENST00000710560.1:c.7651C>A	ENSP00000518343.1:p.Arg2551Ser
ENST00000649878.2:c.1600C>A	ENSP00000497891.2:p.Arg534Ser
ENST00000685397.1:c.1600C>A	ENSP00000509586.1:p.Arg534Ser
ENST00000686370.1:c.1600C>A	ENSP00000509179.1:p.Arg534Ser
ENST00000689424.1:c.1858C>A	ENSP00000509852.1:p.Arg620Ser
ENST00000691053.1:c.7633C>A	ENSP00000509168.1:p.Arg2545Ser
ENST00000389506.10:c.7552C>A	ENSP00000374157.5:p.Arg2518Ser
ENST00000528278.2:n.6903C>A
ENST00000534358.8:c.7561C>A MANE Select	ENSP00000436786.2:p.Arg2521Ser
ENST00000649699.1:c.7438C>A	ENSP00000496927.1:p.Arg2480Ser
ENST00000389506.9:c.7552C>A	ENSP00000374157.5:p.Arg2518Ser
ENST00000528278.1:n.1688C>A
ENST00000534358.5:c.7561C>A	ENSP00000436786.1:p.Arg2521Ser
NM_001197104.1:c.7561C>A , LRG_613t1:c.7561C>A	NP_001184033.1:p.Arg2521Ser
NM_005933.3:c.7552C>A	NP_005924.2:p.Arg2518Ser
XM_006718839.2:c.5044C>A	XP_006718902.2:p.Arg1682Ser
XM_011542829.1:c.7660C>A	XP_011541131.1:p.Arg2554Ser
XM_011542830.1:c.7657C>A	XP_011541132.1:p.Arg2553Ser
XM_011542831.1:c.7651C>A	XP_011541133.1:p.Arg2551Ser
XM_011542832.1:c.5467C>A	XP_011541134.1:p.Arg1823Ser
XM_011542833.1:c.5143C>A	XP_011541135.1:p.Arg1715Ser
XM_006718839.3:c.5044C>A	XP_006718902.2:p.Arg1682Ser
XM_011542829.2:c.7660C>A	XP_011541131.1:p.Arg2554Ser
XM_011542830.2:c.7657C>A	XP_011541132.1:p.Arg2553Ser
XM_011542831.2:c.7651C>A	XP_011541133.1:p.Arg2551Ser
XM_011542833.2:c.5143C>A	XP_011541135.1:p.Arg1715Ser
NM_001197104.2:c.7561C>A MANE Select	NP_001184033.1:p.Arg2521Ser
NM_005933.4:c.7552C>A	NP_005924.2:p.Arg2518Ser