Canonical Allele Identifier: CA222023

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026876A>C , CM000674.2:g.49026876A>C	GRCh38
NC_000012.11:g.49420659A>C , CM000674.1:g.49420659A>C	GRCh37
NC_000012.10:g.47706926A>C	NCBI36
NG_027827.1:g.33449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.15090T>G	ENSP00000506726.1:p.Arg5030=
ENST00000685024.1:c.215T>G
ENST00000685166.1:c.15099T>G	ENSP00000509386.1:p.Arg5033=
ENST00000688411.1:c.261+927T>G	ENSP00000510146.1:n.261+927T>G
ENST00000691463.1:c.476T>G	ENSP00000510624.1:n.476T>G
ENST00000692637.1:c.15087T>G	ENSP00000509666.1:p.Arg5029=
ENST00000301067.12:c.15090T>G MANE Select	ENSP00000301067.7:p.Arg5030=
ENST00000301067.11:c.15090T>G	ENSP00000301067.7:p.Arg5030=
NM_003482.3:c.15090T>G	NP_003473.3:p.Arg5030=
XM_005269162.3:c.15090T>G	XP_005269219.1:p.Arg5030=
XM_006719614.2:c.15099T>G	XP_006719677.1:p.Arg5033=
XM_006719616.2:c.15087T>G	XP_006719679.1:p.Arg5029=
XM_011538770.1:c.15099T>G	XP_011537072.1:p.Arg5033=
XM_011538771.1:c.15096T>G	XP_011537073.1:p.Arg5032=
XM_011538772.1:c.15090T>G	XP_011537074.1:p.Arg5030=
XM_011538773.1:c.15087T>G	XP_011537075.1:p.Arg5029=
XM_011538774.1:c.15078T>G	XP_011537076.1:p.Arg5026=
XM_011538775.1:c.15033T>G	XP_011537077.1:p.Arg5011=
XM_011538776.1:c.15006T>G	XP_011537078.1:p.Arg5002=
XR_944740.1:n.16972+927T>G
XM_005269162.4:c.15090T>G	XP_005269219.1:p.Arg5030=
XM_006719614.4:c.15099T>G	XP_006719677.1:p.Arg5033=
XM_006719616.3:c.15087T>G	XP_006719679.1:p.Arg5029=
XM_011538770.2:c.15099T>G	XP_011537072.1:p.Arg5033=
XM_011538771.2:c.15096T>G	XP_011537073.1:p.Arg5032=
XM_011538772.2:c.15090T>G	XP_011537074.1:p.Arg5030=
XM_011538773.2:c.15087T>G	XP_011537075.1:p.Arg5029=
XM_011538774.2:c.15078T>G	XP_011537076.1:p.Arg5026=
XM_011538776.2:c.15006T>G	XP_011537078.1:p.Arg5002=
XR_001748874.1:n.15961+927T>G
NM_003482.4:c.15090T>G MANE Select	NP_003473.3:p.Arg5030=