Canonical Allele Identifier: CA384675970

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415880G>T (hg19) ; chr12:g.49022097G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022097G>T , CM000674.2:g.49022097G>T	GRCh38
NC_000012.11:g.49415880G>T , CM000674.1:g.49415880G>T	GRCh37
NC_000012.10:g.47702147G>T	NCBI36
NG_027827.1:g.38228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.437C>A
ENST00000681974.1:n.1139C>A
ENST00000682693.1:n.2101C>A
ENST00000682886.1:n.873C>A
ENST00000683543.2:c.16515C>A	ENSP00000506726.1:p.Asp5505Glu
ENST00000683988.1:c.438C>A	ENSP00000506939.1:p.Asp146Glu
ENST00000684428.1:c.1060C>A	ENSP00000507433.1:n.1060C>A
ENST00000685024.1:c.1621C>A
ENST00000685166.1:c.16476C>A	ENSP00000509386.1:p.Asp5492Glu
ENST00000691932.1:c.468C>A	ENSP00000509037.1:p.Asp156Glu
ENST00000692637.1:c.16464C>A	ENSP00000509666.1:p.Asp5488Glu
ENST00000301067.12:c.16467C>A MANE Select	ENSP00000301067.7:p.Asp5489Glu
ENST00000301067.11:c.16467C>A	ENSP00000301067.7:p.Asp5489Glu
ENST00000526209.1:c.510C>A	ENSP00000435714.1:p.Asp170Glu
NM_003482.3:c.16467C>A	NP_003473.3:p.Asp5489Glu
XM_005269162.3:c.16467C>A	XP_005269219.1:p.Asp5489Glu
XM_006719614.2:c.16476C>A	XP_006719677.1:p.Asp5492Glu
XM_006719616.2:c.16464C>A	XP_006719679.1:p.Asp5488Glu
XM_011538770.1:c.16524C>A	XP_011537072.1:p.Asp5508Glu
XM_011538771.1:c.16521C>A	XP_011537073.1:p.Asp5507Glu
XM_011538772.1:c.16515C>A	XP_011537074.1:p.Asp5505Glu
XM_011538773.1:c.16512C>A	XP_011537075.1:p.Asp5504Glu
XM_011538774.1:c.16503C>A	XP_011537076.1:p.Asp5501Glu
XM_011538775.1:c.16458C>A	XP_011537077.1:p.Asp5486Glu
XM_011538776.1:c.16431C>A	XP_011537078.1:p.Asp5477Glu
XM_005269162.4:c.16467C>A	XP_005269219.1:p.Asp5489Glu
XM_006719614.4:c.16476C>A	XP_006719677.1:p.Asp5492Glu
XM_006719616.3:c.16464C>A	XP_006719679.1:p.Asp5488Glu
XM_011538770.2:c.16524C>A	XP_011537072.1:p.Asp5508Glu
XM_011538771.2:c.16521C>A	XP_011537073.1:p.Asp5507Glu
XM_011538772.2:c.16515C>A	XP_011537074.1:p.Asp5505Glu
XM_011538773.2:c.16512C>A	XP_011537075.1:p.Asp5504Glu
XM_011538774.2:c.16503C>A	XP_011537076.1:p.Asp5501Glu
XM_011538776.2:c.16431C>A	XP_011537078.1:p.Asp5477Glu
XR_001748874.1:n.16644C>A
NM_003482.4:c.16467C>A MANE Select	NP_003473.3:p.Asp5489Glu