Canonical Allele Identifier: CA382802461

Gene: KMT2A

Linked Data

• dbSNP Id: rs1555046049
• gnomAD v2: 11-118373235-C-A
• gnomAD v4: 11-118502520-C-A
• MyVariant Identifiers: chr11:g.118373235C>A (hg19) ; chr11:g.118502520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502520C>A , CM000673.2:g.118502520C>A	GRCh38
NC_000011.9:g.118373235C>A , CM000673.1:g.118373235C>A	GRCh37
NC_000011.8:g.117878445C>A	NCBI36
NG_027813.1:g.71031C>A , LRG_613:g.71031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6727C>A	ENSP00000432391.3:p.Leu2243Ile
ENST00000710560.1:c.6718C>A	ENSP00000518343.1:p.Leu2240Ile
ENST00000649878.2:c.667C>A	ENSP00000497891.2:p.Leu223Ile
ENST00000685397.1:c.667C>A	ENSP00000509586.1:p.Leu223Ile
ENST00000686370.1:c.667C>A	ENSP00000509179.1:p.Leu223Ile
ENST00000689424.1:c.925C>A	ENSP00000509852.1:p.Leu309Ile
ENST00000691053.1:c.6700C>A	ENSP00000509168.1:p.Leu2234Ile
ENST00000389506.10:c.6619C>A	ENSP00000374157.5:p.Leu2207Ile
ENST00000528278.2:n.5970C>A
ENST00000534358.8:c.6628C>A MANE Select	ENSP00000436786.2:p.Leu2210Ile
ENST00000649699.1:c.6505C>A	ENSP00000496927.1:p.Leu2169Ile
ENST00000389506.9:c.6619C>A	ENSP00000374157.5:p.Leu2207Ile
ENST00000528278.1:n.755C>A
ENST00000534358.5:c.6628C>A	ENSP00000436786.1:p.Leu2210Ile
NM_001197104.1:c.6628C>A , LRG_613t1:c.6628C>A	NP_001184033.1:p.Leu2210Ile
NM_005933.3:c.6619C>A	NP_005924.2:p.Leu2207Ile
XM_006718839.2:c.4111C>A	XP_006718902.2:p.Leu1371Ile
XM_011542829.1:c.6727C>A	XP_011541131.1:p.Leu2243Ile
XM_011542830.1:c.6724C>A	XP_011541132.1:p.Leu2242Ile
XM_011542831.1:c.6718C>A	XP_011541133.1:p.Leu2240Ile
XM_011542832.1:c.4534C>A	XP_011541134.1:p.Leu1512Ile
XM_011542833.1:c.4210C>A	XP_011541135.1:p.Leu1404Ile
XM_006718839.3:c.4111C>A	XP_006718902.2:p.Leu1371Ile
XM_011542829.2:c.6727C>A	XP_011541131.1:p.Leu2243Ile
XM_011542830.2:c.6724C>A	XP_011541132.1:p.Leu2242Ile
XM_011542831.2:c.6718C>A	XP_011541133.1:p.Leu2240Ile
XM_011542833.2:c.4210C>A	XP_011541135.1:p.Leu1404Ile
NM_001197104.2:c.6628C>A MANE Select	NP_001184033.1:p.Leu2210Ile
NM_005933.4:c.6619C>A	NP_005924.2:p.Leu2207Ile