Canonical Allele Identifier: CA245839

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 197589
• ClinVar RCV Id: RCV000178654 ; RCV000702652
• dbSNP Id: rs398123726
• MyVariant Identifiers: chr12:g.49420519A>G (hg19) ; chr12:g.49026736A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026736A>G , CM000674.2:g.49026736A>G	GRCh38
NC_000012.11:g.49420519A>G , CM000674.1:g.49420519A>G	GRCh37
NC_000012.10:g.47706786A>G	NCBI36
NG_027827.1:g.33589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.15230T>C	ENSP00000506726.1:p.Leu5077Pro
ENST00000685024.1:c.355T>C
ENST00000685166.1:c.15239T>C	ENSP00000509386.1:p.Leu5080Pro
ENST00000688411.1:c.261+1067T>C	ENSP00000510146.1:n.261+1067T>C
ENST00000691463.1:c.616T>C	ENSP00000510624.1:n.616T>C
ENST00000692637.1:c.15227T>C	ENSP00000509666.1:p.Leu5076Pro
ENST00000301067.12:c.15230T>C MANE Select	ENSP00000301067.7:p.Leu5077Pro
ENST00000301067.11:c.15230T>C	ENSP00000301067.7:p.Leu5077Pro
NM_003482.3:c.15230T>C	NP_003473.3:p.Leu5077Pro
XM_005269162.3:c.15230T>C	XP_005269219.1:p.Leu5077Pro
XM_006719614.2:c.15239T>C	XP_006719677.1:p.Leu5080Pro
XM_006719616.2:c.15227T>C	XP_006719679.1:p.Leu5076Pro
XM_011538770.1:c.15239T>C	XP_011537072.1:p.Leu5080Pro
XM_011538771.1:c.15236T>C	XP_011537073.1:p.Leu5079Pro
XM_011538772.1:c.15230T>C	XP_011537074.1:p.Leu5077Pro
XM_011538773.1:c.15227T>C	XP_011537075.1:p.Leu5076Pro
XM_011538774.1:c.15218T>C	XP_011537076.1:p.Leu5073Pro
XM_011538775.1:c.15173T>C	XP_011537077.1:p.Leu5058Pro
XM_011538776.1:c.15146T>C	XP_011537078.1:p.Leu5049Pro
XR_944740.1:n.16972+1067T>C
XM_005269162.4:c.15230T>C	XP_005269219.1:p.Leu5077Pro
XM_006719614.4:c.15239T>C	XP_006719677.1:p.Leu5080Pro
XM_006719616.3:c.15227T>C	XP_006719679.1:p.Leu5076Pro
XM_011538770.2:c.15239T>C	XP_011537072.1:p.Leu5080Pro
XM_011538771.2:c.15236T>C	XP_011537073.1:p.Leu5079Pro
XM_011538772.2:c.15230T>C	XP_011537074.1:p.Leu5077Pro
XM_011538773.2:c.15227T>C	XP_011537075.1:p.Leu5076Pro
XM_011538774.2:c.15218T>C	XP_011537076.1:p.Leu5073Pro
XM_011538776.2:c.15146T>C	XP_011537078.1:p.Leu5049Pro
XR_001748874.1:n.15961+1067T>C
NM_003482.4:c.15230T>C MANE Select	NP_003473.3:p.Leu5077Pro