Canonical Allele Identifier: CA479521984

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711436
• MyVariant Identifiers: chr12:g.49418611C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024828C>T , CM000674.2:g.49024828C>T	GRCh38
NC_000012.11:g.49418611C>T , CM000674.1:g.49418611C>T	GRCh37
NC_000012.10:g.47704878C>T	NCBI36
NG_027827.1:g.35497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.575G>A
ENST00000683543.2:c.15903G>A	ENSP00000506726.1:p.Val5301=
ENST00000683863.1:n.1618G>A
ENST00000684428.1:c.438G>A	ENSP00000507433.1:p.Val146=
ENST00000684755.1:n.438G>A
ENST00000685024.1:c.1028G>A
ENST00000685166.1:c.15912G>A	ENSP00000509386.1:p.Val5304=
ENST00000688411.1:c.380G>A	ENSP00000510146.1:n.380G>A
ENST00000691463.1:c.1289G>A	ENSP00000510624.1:n.1289G>A
ENST00000692637.1:c.15900G>A	ENSP00000509666.1:p.Val5300=
ENST00000301067.12:c.15903G>A MANE Select	ENSP00000301067.7:p.Val5301=
ENST00000301067.11:c.15903G>A	ENSP00000301067.7:p.Val5301=
NM_003482.3:c.15903G>A	NP_003473.3:p.Val5301=
XM_005269162.3:c.15903G>A	XP_005269219.1:p.Val5301=
XM_006719614.2:c.15912G>A	XP_006719677.1:p.Val5304=
XM_006719616.2:c.15900G>A	XP_006719679.1:p.Val5300=
XM_011538770.1:c.15912G>A	XP_011537072.1:p.Val5304=
XM_011538771.1:c.15909G>A	XP_011537073.1:p.Val5303=
XM_011538772.1:c.15903G>A	XP_011537074.1:p.Val5301=
XM_011538773.1:c.15900G>A	XP_011537075.1:p.Val5300=
XM_011538774.1:c.15891G>A	XP_011537076.1:p.Val5297=
XM_011538775.1:c.15846G>A	XP_011537077.1:p.Val5282=
XM_011538776.1:c.15819G>A	XP_011537078.1:p.Val5273=
XR_944740.1:n.17091G>A
XM_005269162.4:c.15903G>A	XP_005269219.1:p.Val5301=
XM_006719614.4:c.15912G>A	XP_006719677.1:p.Val5304=
XM_006719616.3:c.15900G>A	XP_006719679.1:p.Val5300=
XM_011538770.2:c.15912G>A	XP_011537072.1:p.Val5304=
XM_011538771.2:c.15909G>A	XP_011537073.1:p.Val5303=
XM_011538772.2:c.15903G>A	XP_011537074.1:p.Val5301=
XM_011538773.2:c.15900G>A	XP_011537075.1:p.Val5300=
XM_011538774.2:c.15891G>A	XP_011537076.1:p.Val5297=
XM_011538776.2:c.15819G>A	XP_011537078.1:p.Val5273=
XR_001748874.1:n.16080G>A
NM_003482.4:c.15903G>A MANE Select	NP_003473.3:p.Val5301=