Canonical Allele Identifier: CA384677446

Gene: KMT2D

Linked Data

• dbSNP Id: rs1364088731
• MyVariant Identifiers: chr12:g.49416391C>G (hg19) ; chr12:g.49022608C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022608C>G , CM000674.2:g.49022608C>G	GRCh38
NC_000012.11:g.49416391C>G , CM000674.1:g.49416391C>G	GRCh37
NC_000012.10:g.47702658C>G	NCBI36
NG_027827.1:g.37717G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.290G>C
ENST00000681974.1:n.992G>C
ENST00000682693.1:n.1954G>C
ENST00000682886.1:n.490G>C
ENST00000683543.2:c.16368G>C	ENSP00000506726.1:p.Glu5456Asp
ENST00000683988.1:c.291G>C	ENSP00000506939.1:p.Glu97Asp
ENST00000684428.1:c.855G>C	ENSP00000507433.1:p.Glu285Asp
ENST00000684755.1:n.903G>C
ENST00000685024.1:c.1474G>C
ENST00000685166.1:c.16329G>C	ENSP00000509386.1:p.Glu5443Asp
ENST00000688411.1:c.797G>C	ENSP00000510146.1:n.797G>C
ENST00000691932.1:c.321G>C	ENSP00000509037.1:p.Glu107Asp
ENST00000692637.1:c.16317G>C	ENSP00000509666.1:p.Glu5439Asp
ENST00000301067.12:c.16320G>C MANE Select	ENSP00000301067.7:p.Glu5440Asp
ENST00000301067.11:c.16320G>C	ENSP00000301067.7:p.Glu5440Asp
ENST00000526209.1:c.363G>C	ENSP00000435714.1:p.Glu121Asp
NM_003482.3:c.16320G>C	NP_003473.3:p.Glu5440Asp
XM_005269162.3:c.16320G>C	XP_005269219.1:p.Glu5440Asp
XM_006719614.2:c.16329G>C	XP_006719677.1:p.Glu5443Asp
XM_006719616.2:c.16317G>C	XP_006719679.1:p.Glu5439Asp
XM_011538770.1:c.16377G>C	XP_011537072.1:p.Glu5459Asp
XM_011538771.1:c.16374G>C	XP_011537073.1:p.Glu5458Asp
XM_011538772.1:c.16368G>C	XP_011537074.1:p.Glu5456Asp
XM_011538773.1:c.16365G>C	XP_011537075.1:p.Glu5455Asp
XM_011538774.1:c.16356G>C	XP_011537076.1:p.Glu5452Asp
XM_011538775.1:c.16311G>C	XP_011537077.1:p.Glu5437Asp
XM_011538776.1:c.16284G>C	XP_011537078.1:p.Glu5428Asp
XM_005269162.4:c.16320G>C	XP_005269219.1:p.Glu5440Asp
XM_006719614.4:c.16329G>C	XP_006719677.1:p.Glu5443Asp
XM_006719616.3:c.16317G>C	XP_006719679.1:p.Glu5439Asp
XM_011538770.2:c.16377G>C	XP_011537072.1:p.Glu5459Asp
XM_011538771.2:c.16374G>C	XP_011537073.1:p.Glu5458Asp
XM_011538772.2:c.16368G>C	XP_011537074.1:p.Glu5456Asp
XM_011538773.2:c.16365G>C	XP_011537075.1:p.Glu5455Asp
XM_011538774.2:c.16356G>C	XP_011537076.1:p.Glu5452Asp
XM_011538776.2:c.16284G>C	XP_011537078.1:p.Glu5428Asp
XR_001748874.1:n.16497G>C
NM_003482.4:c.16320G>C MANE Select	NP_003473.3:p.Glu5440Asp