Canonical Allele Identifier: CA384677360

Gene: KMT2D

Linked Data

• dbSNP Id: rs1436698999
• gnomAD v2: 12-49416381-C-T
• gnomAD v4: 12-49022598-C-T
• COSMIC: COSM939966 ; COSM939967
• MyVariant Identifiers: chr12:g.49416381C>T (hg19) ; chr12:g.49022598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022598C>T , CM000674.2:g.49022598C>T	GRCh38
NC_000012.11:g.49416381C>T , CM000674.1:g.49416381C>T	GRCh37
NC_000012.10:g.47702648C>T	NCBI36
NG_027827.1:g.37727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.300G>A
ENST00000681974.1:n.1002G>A
ENST00000682693.1:n.1964G>A
ENST00000682886.1:n.500G>A
ENST00000683543.2:c.16378G>A	ENSP00000506726.1:p.Glu5460Lys
ENST00000683988.1:c.301G>A	ENSP00000506939.1:p.Glu101Lys
ENST00000684428.1:c.865G>A	ENSP00000507433.1:p.Glu289Lys
ENST00000684755.1:n.913G>A
ENST00000685024.1:c.1484G>A
ENST00000685166.1:c.16339G>A	ENSP00000509386.1:p.Glu5447Lys
ENST00000688411.1:c.807G>A	ENSP00000510146.1:n.807G>A
ENST00000691932.1:c.331G>A	ENSP00000509037.1:p.Glu111Lys
ENST00000692637.1:c.16327G>A	ENSP00000509666.1:p.Glu5443Lys
ENST00000301067.12:c.16330G>A MANE Select	ENSP00000301067.7:p.Glu5444Lys
ENST00000301067.11:c.16330G>A	ENSP00000301067.7:p.Glu5444Lys
ENST00000526209.1:c.373G>A	ENSP00000435714.1:p.Glu125Lys
NM_003482.3:c.16330G>A	NP_003473.3:p.Glu5444Lys
XM_005269162.3:c.16330G>A	XP_005269219.1:p.Glu5444Lys
XM_006719614.2:c.16339G>A	XP_006719677.1:p.Glu5447Lys
XM_006719616.2:c.16327G>A	XP_006719679.1:p.Glu5443Lys
XM_011538770.1:c.16387G>A	XP_011537072.1:p.Glu5463Lys
XM_011538771.1:c.16384G>A	XP_011537073.1:p.Glu5462Lys
XM_011538772.1:c.16378G>A	XP_011537074.1:p.Glu5460Lys
XM_011538773.1:c.16375G>A	XP_011537075.1:p.Glu5459Lys
XM_011538774.1:c.16366G>A	XP_011537076.1:p.Glu5456Lys
XM_011538775.1:c.16321G>A	XP_011537077.1:p.Glu5441Lys
XM_011538776.1:c.16294G>A	XP_011537078.1:p.Glu5432Lys
XM_005269162.4:c.16330G>A	XP_005269219.1:p.Glu5444Lys
XM_006719614.4:c.16339G>A	XP_006719677.1:p.Glu5447Lys
XM_006719616.3:c.16327G>A	XP_006719679.1:p.Glu5443Lys
XM_011538770.2:c.16387G>A	XP_011537072.1:p.Glu5463Lys
XM_011538771.2:c.16384G>A	XP_011537073.1:p.Glu5462Lys
XM_011538772.2:c.16378G>A	XP_011537074.1:p.Glu5460Lys
XM_011538773.2:c.16375G>A	XP_011537075.1:p.Glu5459Lys
XM_011538774.2:c.16366G>A	XP_011537076.1:p.Glu5456Lys
XM_011538776.2:c.16294G>A	XP_011537078.1:p.Glu5432Lys
XR_001748874.1:n.16507G>A
NM_003482.4:c.16330G>A MANE Select	NP_003473.3:p.Glu5444Lys