Canonical Allele Identifier: CA384677454

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706253
• MyVariant Identifiers: chr12:g.49416393C>G (hg19) ; chr12:g.49022610C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022610C>G , CM000674.2:g.49022610C>G	GRCh38
NC_000012.11:g.49416393C>G , CM000674.1:g.49416393C>G	GRCh37
NC_000012.10:g.47702660C>G	NCBI36
NG_027827.1:g.37715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.288G>C
ENST00000681974.1:n.990G>C
ENST00000682693.1:n.1952G>C
ENST00000682886.1:n.488G>C
ENST00000683543.2:c.16366G>C	ENSP00000506726.1:p.Glu5456Gln
ENST00000683988.1:c.289G>C	ENSP00000506939.1:p.Glu97Gln
ENST00000684428.1:c.853G>C	ENSP00000507433.1:p.Glu285Gln
ENST00000684755.1:n.901G>C
ENST00000685024.1:c.1472G>C
ENST00000685166.1:c.16327G>C	ENSP00000509386.1:p.Glu5443Gln
ENST00000688411.1:c.795G>C	ENSP00000510146.1:n.795G>C
ENST00000691932.1:c.319G>C	ENSP00000509037.1:p.Glu107Gln
ENST00000692637.1:c.16315G>C	ENSP00000509666.1:p.Glu5439Gln
ENST00000301067.12:c.16318G>C MANE Select	ENSP00000301067.7:p.Glu5440Gln
ENST00000301067.11:c.16318G>C	ENSP00000301067.7:p.Glu5440Gln
ENST00000526209.1:c.361G>C	ENSP00000435714.1:p.Glu121Gln
NM_003482.3:c.16318G>C	NP_003473.3:p.Glu5440Gln
XM_005269162.3:c.16318G>C	XP_005269219.1:p.Glu5440Gln
XM_006719614.2:c.16327G>C	XP_006719677.1:p.Glu5443Gln
XM_006719616.2:c.16315G>C	XP_006719679.1:p.Glu5439Gln
XM_011538770.1:c.16375G>C	XP_011537072.1:p.Glu5459Gln
XM_011538771.1:c.16372G>C	XP_011537073.1:p.Glu5458Gln
XM_011538772.1:c.16366G>C	XP_011537074.1:p.Glu5456Gln
XM_011538773.1:c.16363G>C	XP_011537075.1:p.Glu5455Gln
XM_011538774.1:c.16354G>C	XP_011537076.1:p.Glu5452Gln
XM_011538775.1:c.16309G>C	XP_011537077.1:p.Glu5437Gln
XM_011538776.1:c.16282G>C	XP_011537078.1:p.Glu5428Gln
XM_005269162.4:c.16318G>C	XP_005269219.1:p.Glu5440Gln
XM_006719614.4:c.16327G>C	XP_006719677.1:p.Glu5443Gln
XM_006719616.3:c.16315G>C	XP_006719679.1:p.Glu5439Gln
XM_011538770.2:c.16375G>C	XP_011537072.1:p.Glu5459Gln
XM_011538771.2:c.16372G>C	XP_011537073.1:p.Glu5458Gln
XM_011538772.2:c.16366G>C	XP_011537074.1:p.Glu5456Gln
XM_011538773.2:c.16363G>C	XP_011537075.1:p.Glu5455Gln
XM_011538774.2:c.16354G>C	XP_011537076.1:p.Glu5452Gln
XM_011538776.2:c.16282G>C	XP_011537078.1:p.Glu5428Gln
XR_001748874.1:n.16495G>C
NM_003482.4:c.16318G>C MANE Select	NP_003473.3:p.Glu5440Gln