Canonical Allele Identifier: CA384677350

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416379T>G (hg19) ; chr12:g.49022596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022596T>G , CM000674.2:g.49022596T>G	GRCh38
NC_000012.11:g.49416379T>G , CM000674.1:g.49416379T>G	GRCh37
NC_000012.10:g.47702646T>G	NCBI36
NG_027827.1:g.37729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.302A>C
ENST00000681974.1:n.1004A>C
ENST00000682693.1:n.1966A>C
ENST00000682886.1:n.502A>C
ENST00000683543.2:c.16380A>C	ENSP00000506726.1:p.Glu5460Asp
ENST00000683988.1:c.303A>C	ENSP00000506939.1:p.Glu101Asp
ENST00000684428.1:c.867A>C	ENSP00000507433.1:p.Glu289Asp
ENST00000684755.1:n.915A>C
ENST00000685024.1:c.1486A>C
ENST00000685166.1:c.16341A>C	ENSP00000509386.1:p.Glu5447Asp
ENST00000688411.1:c.809A>C	ENSP00000510146.1:n.809A>C
ENST00000691932.1:c.333A>C	ENSP00000509037.1:p.Glu111Asp
ENST00000692637.1:c.16329A>C	ENSP00000509666.1:p.Glu5443Asp
ENST00000301067.12:c.16332A>C MANE Select	ENSP00000301067.7:p.Glu5444Asp
ENST00000301067.11:c.16332A>C	ENSP00000301067.7:p.Glu5444Asp
ENST00000526209.1:c.375A>C	ENSP00000435714.1:p.Glu125Asp
NM_003482.3:c.16332A>C	NP_003473.3:p.Glu5444Asp
XM_005269162.3:c.16332A>C	XP_005269219.1:p.Glu5444Asp
XM_006719614.2:c.16341A>C	XP_006719677.1:p.Glu5447Asp
XM_006719616.2:c.16329A>C	XP_006719679.1:p.Glu5443Asp
XM_011538770.1:c.16389A>C	XP_011537072.1:p.Glu5463Asp
XM_011538771.1:c.16386A>C	XP_011537073.1:p.Glu5462Asp
XM_011538772.1:c.16380A>C	XP_011537074.1:p.Glu5460Asp
XM_011538773.1:c.16377A>C	XP_011537075.1:p.Glu5459Asp
XM_011538774.1:c.16368A>C	XP_011537076.1:p.Glu5456Asp
XM_011538775.1:c.16323A>C	XP_011537077.1:p.Glu5441Asp
XM_011538776.1:c.16296A>C	XP_011537078.1:p.Glu5432Asp
XM_005269162.4:c.16332A>C	XP_005269219.1:p.Glu5444Asp
XM_006719614.4:c.16341A>C	XP_006719677.1:p.Glu5447Asp
XM_006719616.3:c.16329A>C	XP_006719679.1:p.Glu5443Asp
XM_011538770.2:c.16389A>C	XP_011537072.1:p.Glu5463Asp
XM_011538771.2:c.16386A>C	XP_011537073.1:p.Glu5462Asp
XM_011538772.2:c.16380A>C	XP_011537074.1:p.Glu5460Asp
XM_011538773.2:c.16377A>C	XP_011537075.1:p.Glu5459Asp
XM_011538774.2:c.16368A>C	XP_011537076.1:p.Glu5456Asp
XM_011538776.2:c.16296A>C	XP_011537078.1:p.Glu5432Asp
XR_001748874.1:n.16509A>C
NM_003482.4:c.16332A>C MANE Select	NP_003473.3:p.Glu5444Asp