Canonical Allele Identifier: CA479521642

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418375G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024592G>T , CM000674.2:g.49024592G>T	GRCh38
NC_000012.11:g.49418375G>T , CM000674.1:g.49418375G>T	GRCh37
NC_000012.10:g.47704642G>T	NCBI36
NG_027827.1:g.35733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.710C>A
ENST00000683543.2:c.16038C>A	ENSP00000506726.1:p.Leu5346=
ENST00000683863.1:n.1753C>A
ENST00000684428.1:c.573C>A	ENSP00000507433.1:p.Leu191=
ENST00000684755.1:n.573C>A
ENST00000685024.1:c.1192C>A
ENST00000685166.1:c.16047C>A	ENSP00000509386.1:p.Leu5349=
ENST00000688411.1:c.515C>A	ENSP00000510146.1:n.515C>A
ENST00000691932.1:c.117C>A	ENSP00000509037.1:p.Leu39=
ENST00000692637.1:c.16035C>A	ENSP00000509666.1:p.Leu5345=
ENST00000301067.12:c.16038C>A MANE Select	ENSP00000301067.7:p.Leu5346=
ENST00000301067.11:c.16038C>A	ENSP00000301067.7:p.Leu5346=
ENST00000526209.1:c.33C>A	ENSP00000435714.1:p.Leu11=
NM_003482.3:c.16038C>A	NP_003473.3:p.Leu5346=
XM_005269162.3:c.16038C>A	XP_005269219.1:p.Leu5346=
XM_006719614.2:c.16047C>A	XP_006719677.1:p.Leu5349=
XM_006719616.2:c.16035C>A	XP_006719679.1:p.Leu5345=
XM_011538770.1:c.16047C>A	XP_011537072.1:p.Leu5349=
XM_011538771.1:c.16044C>A	XP_011537073.1:p.Leu5348=
XM_011538772.1:c.16038C>A	XP_011537074.1:p.Leu5346=
XM_011538773.1:c.16035C>A	XP_011537075.1:p.Leu5345=
XM_011538774.1:c.16026C>A	XP_011537076.1:p.Leu5342=
XM_011538775.1:c.15981C>A	XP_011537077.1:p.Leu5327=
XM_011538776.1:c.15954C>A	XP_011537078.1:p.Leu5318=
XM_005269162.4:c.16038C>A	XP_005269219.1:p.Leu5346=
XM_006719614.4:c.16047C>A	XP_006719677.1:p.Leu5349=
XM_006719616.3:c.16035C>A	XP_006719679.1:p.Leu5345=
XM_011538770.2:c.16047C>A	XP_011537072.1:p.Leu5349=
XM_011538771.2:c.16044C>A	XP_011537073.1:p.Leu5348=
XM_011538772.2:c.16038C>A	XP_011537074.1:p.Leu5346=
XM_011538773.2:c.16035C>A	XP_011537075.1:p.Leu5345=
XM_011538774.2:c.16026C>A	XP_011537076.1:p.Leu5342=
XM_011538776.2:c.15954C>A	XP_011537078.1:p.Leu5318=
XR_001748874.1:n.16215C>A
NM_003482.4:c.16038C>A MANE Select	NP_003473.3:p.Leu5346=