Canonical Allele Identifier: CA384703059

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49424683A>C (hg19) ; chr12:g.49030900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030900A>C , CM000674.2:g.49030900A>C	GRCh38
NC_000012.11:g.49424683A>C , CM000674.1:g.49424683A>C	GRCh37
NC_000012.10:g.47710950A>C	NCBI36
NG_027827.1:g.29425T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.364T>G
ENST00000683543.2:c.13664T>G	ENSP00000506726.1:p.Leu4555Arg
ENST00000685166.1:c.13673T>G	ENSP00000509386.1:p.Leu4558Arg
ENST00000685982.1:c.139-132T>G	ENSP00000508613.1:n.139-132T>G
ENST00000691986.1:c.138+275T>G	ENSP00000509196.1:n.138+275T>G
ENST00000692637.1:c.13661T>G	ENSP00000509666.1:p.Leu4554Arg
ENST00000692973.1:c.265T>G	ENSP00000508893.1:n.265T>G
ENST00000301067.12:c.13664T>G MANE Select	ENSP00000301067.7:p.Leu4555Arg
ENST00000301067.11:c.13664T>G	ENSP00000301067.7:p.Leu4555Arg
ENST00000552391.1:n.364T>G
NM_003482.3:c.13664T>G	NP_003473.3:p.Leu4555Arg
XM_005269162.3:c.13664T>G	XP_005269219.1:p.Leu4555Arg
XM_006719614.2:c.13673T>G	XP_006719677.1:p.Leu4558Arg
XM_006719616.2:c.13661T>G	XP_006719679.1:p.Leu4554Arg
XM_011538770.1:c.13673T>G	XP_011537072.1:p.Leu4558Arg
XM_011538771.1:c.13670T>G	XP_011537073.1:p.Leu4557Arg
XM_011538772.1:c.13664T>G	XP_011537074.1:p.Leu4555Arg
XM_011538773.1:c.13661T>G	XP_011537075.1:p.Leu4554Arg
XM_011538774.1:c.13652T>G	XP_011537076.1:p.Leu4551Arg
XM_011538775.1:c.13673T>G	XP_011537077.1:p.Leu4558Arg
XM_011538776.1:c.13580T>G	XP_011537078.1:p.Leu4527Arg
XR_944740.1:n.15993T>G
XM_005269162.4:c.13664T>G	XP_005269219.1:p.Leu4555Arg
XM_006719614.4:c.13673T>G	XP_006719677.1:p.Leu4558Arg
XM_006719616.3:c.13661T>G	XP_006719679.1:p.Leu4554Arg
XM_011538770.2:c.13673T>G	XP_011537072.1:p.Leu4558Arg
XM_011538771.2:c.13670T>G	XP_011537073.1:p.Leu4557Arg
XM_011538772.2:c.13664T>G	XP_011537074.1:p.Leu4555Arg
XM_011538773.2:c.13661T>G	XP_011537075.1:p.Leu4554Arg
XM_011538774.2:c.13652T>G	XP_011537076.1:p.Leu4551Arg
XM_011538776.2:c.13580T>G	XP_011537078.1:p.Leu4527Arg
XR_001748874.1:n.14982T>G
NM_003482.4:c.13664T>G MANE Select	NP_003473.3:p.Leu4555Arg