Canonical Allele Identifier: CA384675943

Gene: KMT2D

Linked Data

• dbSNP Id: rs1477916093
• MyVariant Identifiers: chr12:g.49415876C>T (hg19) ; chr12:g.49022093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022093C>T , CM000674.2:g.49022093C>T	GRCh38
NC_000012.11:g.49415876C>T , CM000674.1:g.49415876C>T	GRCh37
NC_000012.10:g.47702143C>T	NCBI36
NG_027827.1:g.38232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.441G>A
ENST00000681974.1:n.1143G>A
ENST00000682693.1:n.2105G>A
ENST00000682886.1:n.877G>A
ENST00000683543.2:c.16519G>A	ENSP00000506726.1:p.Glu5507Lys
ENST00000683988.1:c.442G>A	ENSP00000506939.1:p.Glu148Lys
ENST00000684428.1:c.1064G>A	ENSP00000507433.1:n.1064G>A
ENST00000685024.1:c.1625G>A
ENST00000685166.1:c.16480G>A	ENSP00000509386.1:p.Glu5494Lys
ENST00000691932.1:c.472G>A	ENSP00000509037.1:p.Glu158Lys
ENST00000692637.1:c.16468G>A	ENSP00000509666.1:p.Glu5490Lys
ENST00000301067.12:c.16471G>A MANE Select	ENSP00000301067.7:p.Glu5491Lys
ENST00000301067.11:c.16471G>A	ENSP00000301067.7:p.Glu5491Lys
ENST00000526209.1:c.514G>A	ENSP00000435714.1:p.Glu172Lys
NM_003482.3:c.16471G>A	NP_003473.3:p.Glu5491Lys
XM_005269162.3:c.16471G>A	XP_005269219.1:p.Glu5491Lys
XM_006719614.2:c.16480G>A	XP_006719677.1:p.Glu5494Lys
XM_006719616.2:c.16468G>A	XP_006719679.1:p.Glu5490Lys
XM_011538770.1:c.16528G>A	XP_011537072.1:p.Glu5510Lys
XM_011538771.1:c.16525G>A	XP_011537073.1:p.Glu5509Lys
XM_011538772.1:c.16519G>A	XP_011537074.1:p.Glu5507Lys
XM_011538773.1:c.16516G>A	XP_011537075.1:p.Glu5506Lys
XM_011538774.1:c.16507G>A	XP_011537076.1:p.Glu5503Lys
XM_011538775.1:c.16462G>A	XP_011537077.1:p.Glu5488Lys
XM_011538776.1:c.16435G>A	XP_011537078.1:p.Glu5479Lys
XM_005269162.4:c.16471G>A	XP_005269219.1:p.Glu5491Lys
XM_006719614.4:c.16480G>A	XP_006719677.1:p.Glu5494Lys
XM_006719616.3:c.16468G>A	XP_006719679.1:p.Glu5490Lys
XM_011538770.2:c.16528G>A	XP_011537072.1:p.Glu5510Lys
XM_011538771.2:c.16525G>A	XP_011537073.1:p.Glu5509Lys
XM_011538772.2:c.16519G>A	XP_011537074.1:p.Glu5507Lys
XM_011538773.2:c.16516G>A	XP_011537075.1:p.Glu5506Lys
XM_011538774.2:c.16507G>A	XP_011537076.1:p.Glu5503Lys
XM_011538776.2:c.16435G>A	XP_011537078.1:p.Glu5479Lys
XR_001748874.1:n.16648G>A
NM_003482.4:c.16471G>A MANE Select	NP_003473.3:p.Glu5491Lys