Canonical Allele Identifier: CA2034964104

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024682G= , CM000674.2:g.49024682G=	GRCh38
NC_000012.11:g.49418465G= , CM000674.1:g.49418465G=	GRCh37
NC_000012.10:g.47704732G=	NCBI36
NG_027827.1:g.35643C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.620C=
ENST00000683543.2:c.15948C=	ENSP00000506726.1:p.Asn5316=
ENST00000683863.1:n.1663C=
ENST00000684428.1:c.483C=	ENSP00000507433.1:p.Asn161=
ENST00000684755.1:n.483C=
ENST00000685024.1:c.1102C=
ENST00000685166.1:c.15957C=	ENSP00000509386.1:p.Asn5319=
ENST00000688411.1:c.425C=	ENSP00000510146.1:n.425C=
ENST00000691932.1:c.27C=	ENSP00000509037.1:p.Asn9=
ENST00000692637.1:c.15945C=	ENSP00000509666.1:p.Asn5315=
ENST00000301067.12:c.15948C= MANE Select	ENSP00000301067.7:p.Asn5316=
ENST00000301067.11:c.15948C=	ENSP00000301067.7:p.Asn5316=
NM_003482.3:c.15948C=	NP_003473.3:p.Asn5316=
XM_005269162.3:c.15948C=	XP_005269219.1:p.Asn5316=
XM_006719614.2:c.15957C=	XP_006719677.1:p.Asn5319=
XM_006719616.2:c.15945C=	XP_006719679.1:p.Asn5315=
XM_011538770.1:c.15957C=	XP_011537072.1:p.Asn5319=
XM_011538771.1:c.15954C=	XP_011537073.1:p.Asn5318=
XM_011538772.1:c.15948C=	XP_011537074.1:p.Asn5316=
XM_011538773.1:c.15945C=	XP_011537075.1:p.Asn5315=
XM_011538774.1:c.15936C=	XP_011537076.1:p.Asn5312=
XM_011538775.1:c.15891C=	XP_011537077.1:p.Asn5297=
XM_011538776.1:c.15864C=	XP_011537078.1:p.Asn5288=
XM_005269162.4:c.15948C=	XP_005269219.1:p.Asn5316=
XM_006719614.4:c.15957C=	XP_006719677.1:p.Asn5319=
XM_006719616.3:c.15945C=	XP_006719679.1:p.Asn5315=
XM_011538770.2:c.15957C=	XP_011537072.1:p.Asn5319=
XM_011538771.2:c.15954C=	XP_011537073.1:p.Asn5318=
XM_011538772.2:c.15948C=	XP_011537074.1:p.Asn5316=
XM_011538773.2:c.15945C=	XP_011537075.1:p.Asn5315=
XM_011538774.2:c.15936C=	XP_011537076.1:p.Asn5312=
XM_011538776.2:c.15864C=	XP_011537078.1:p.Asn5288=
XR_001748874.1:n.16125C=
NM_003482.4:c.15948C= MANE Select	NP_003473.3:p.Asn5316=