Canonical Allele Identifier: CA384627675

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49436087T>G (hg19) ; chr12:g.49042304T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042304T>G , CM000674.2:g.49042304T>G	GRCh38
NC_000012.11:g.49436087T>G , CM000674.1:g.49436087T>G	GRCh37
NC_000012.10:g.47722354T>G	NCBI36
NG_027827.1:g.18021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.685A>C
ENST00000683543.2:c.5894A>C	ENSP00000506726.1:p.Glu1965Ala
ENST00000685166.1:c.5903A>C	ENSP00000509386.1:p.Glu1968Ala
ENST00000689060.1:c.6A>C
ENST00000689944.1:c.6A>C
ENST00000692637.1:c.5891A>C	ENSP00000509666.1:p.Glu1964Ala
ENST00000301067.12:c.5894A>C MANE Select	ENSP00000301067.7:p.Glu1965Ala
ENST00000301067.11:c.5894A>C	ENSP00000301067.7:p.Glu1965Ala
NM_003482.3:c.5894A>C	NP_003473.3:p.Glu1965Ala
XM_005269162.3:c.5894A>C	XP_005269219.1:p.Glu1965Ala
XM_006719614.2:c.5903A>C	XP_006719677.1:p.Glu1968Ala
XM_006719616.2:c.5891A>C	XP_006719679.1:p.Glu1964Ala
XM_011538770.1:c.5903A>C	XP_011537072.1:p.Glu1968Ala
XM_011538771.1:c.5900A>C	XP_011537073.1:p.Glu1967Ala
XM_011538772.1:c.5894A>C	XP_011537074.1:p.Glu1965Ala
XM_011538773.1:c.5891A>C	XP_011537075.1:p.Glu1964Ala
XM_011538774.1:c.5882A>C	XP_011537076.1:p.Glu1961Ala
XM_011538775.1:c.5903A>C	XP_011537077.1:p.Glu1968Ala
XM_011538776.1:c.5903A>C	XP_011537078.1:p.Glu1968Ala
XR_944740.1:n.8223A>C
XM_005269162.4:c.5894A>C	XP_005269219.1:p.Glu1965Ala
XM_006719614.4:c.5903A>C	XP_006719677.1:p.Glu1968Ala
XM_006719616.3:c.5891A>C	XP_006719679.1:p.Glu1964Ala
XM_011538770.2:c.5903A>C	XP_011537072.1:p.Glu1968Ala
XM_011538771.2:c.5900A>C	XP_011537073.1:p.Glu1967Ala
XM_011538772.2:c.5894A>C	XP_011537074.1:p.Glu1965Ala
XM_011538773.2:c.5891A>C	XP_011537075.1:p.Glu1964Ala
XM_011538774.2:c.5882A>C	XP_011537076.1:p.Glu1961Ala
XM_011538776.2:c.5903A>C	XP_011537078.1:p.Glu1968Ala
XR_001748874.1:n.7212A>C
NM_003482.4:c.5894A>C MANE Select	NP_003473.3:p.Glu1965Ala