Canonical Allele Identifier: CA384677297

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 531882
• ClinVar RCV Id: RCV000638431
• dbSNP Id: rs1555184777
• MyVariant Identifiers: chr12:g.49416371A>G (hg19) ; chr12:g.49022588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022588A>G , CM000674.2:g.49022588A>G	GRCh38
NC_000012.11:g.49416371A>G , CM000674.1:g.49416371A>G	GRCh37
NC_000012.10:g.47702638A>G	NCBI36
NG_027827.1:g.37737T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.308+2T>C
ENST00000681974.1:n.1010+2T>C
ENST00000682693.1:n.1972+2T>C
ENST00000682886.1:n.510T>C
ENST00000683543.2:c.16386+2T>C	ENSP00000506726.1:n.16386+2T>C
ENST00000683988.1:c.309+2T>C	ENSP00000506939.1:n.309+2T>C
ENST00000684428.1:c.873+2T>C	ENSP00000507433.1:n.873+2T>C
ENST00000684755.1:n.923T>C
ENST00000685024.1:c.1492+2T>C
ENST00000685166.1:c.16347+2T>C	ENSP00000509386.1:n.16347+2T>C
ENST00000691932.1:c.339+2T>C	ENSP00000509037.1:n.339+2T>C
ENST00000692637.1:c.16335+2T>C	ENSP00000509666.1:n.16335+2T>C
ENST00000301067.12:c.16338+2T>C MANE Select	ENSP00000301067.7:n.16338+2T>C
ENST00000301067.11:c.16338+2T>C	ENSP00000301067.7:n.16338+2T>C
ENST00000526209.1:c.381+2T>C	ENSP00000435714.1:n.381+2T>C
NM_003482.3:c.16338+2T>C	NP_003473.3:n.16338+2T>C
XM_005269162.3:c.16338+2T>C	XP_005269219.1:n.16338+2T>C
XM_006719614.2:c.16347+2T>C	XP_006719677.1:n.16347+2T>C
XM_006719616.2:c.16335+2T>C	XP_006719679.1:n.16335+2T>C
XM_011538770.1:c.16395+2T>C	XP_011537072.1:n.16395+2T>C
XM_011538771.1:c.16392+2T>C	XP_011537073.1:n.16392+2T>C
XM_011538772.1:c.16386+2T>C	XP_011537074.1:n.16386+2T>C
XM_011538773.1:c.16383+2T>C	XP_011537075.1:n.16383+2T>C
XM_011538774.1:c.16374+2T>C	XP_011537076.1:n.16374+2T>C
XM_011538775.1:c.16329+2T>C	XP_011537077.1:n.16329+2T>C
XM_011538776.1:c.16302+2T>C	XP_011537078.1:n.16302+2T>C
XM_005269162.4:c.16338+2T>C	XP_005269219.1:n.16338+2T>C
XM_006719614.4:c.16347+2T>C	XP_006719677.1:n.16347+2T>C
XM_006719616.3:c.16335+2T>C	XP_006719679.1:n.16335+2T>C
XM_011538770.2:c.16395+2T>C	XP_011537072.1:n.16395+2T>C
XM_011538771.2:c.16392+2T>C	XP_011537073.1:n.16392+2T>C
XM_011538772.2:c.16386+2T>C	XP_011537074.1:n.16386+2T>C
XM_011538773.2:c.16383+2T>C	XP_011537075.1:n.16383+2T>C
XM_011538774.2:c.16374+2T>C	XP_011537076.1:n.16374+2T>C
XM_011538776.2:c.16302+2T>C	XP_011537078.1:n.16302+2T>C
XR_001748874.1:n.16515+2T>C
NM_003482.4:c.16338+2T>C MANE Select	NP_003473.3:n.16338+2T>C