Canonical Allele Identifier: CA2034959075

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039253C= , CM000674.2:g.49039253C=	GRCh38
NC_000012.11:g.49433036C= , CM000674.1:g.49433036C=	GRCh37
NC_000012.10:g.47719303C=	NCBI36
NG_027827.1:g.21072G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.34G=
ENST00000683543.2:c.8335G=	ENSP00000506726.1:p.Ala2779=
ENST00000685166.1:c.8344G=	ENSP00000509386.1:p.Ala2782=
ENST00000689060.1:c.2354G=
ENST00000689143.1:c.2008G=	ENSP00000509839.1:p.Ala670=
ENST00000689944.1:c.2444G=
ENST00000692637.1:c.8332G=	ENSP00000509666.1:p.Ala2778=
ENST00000301067.12:c.8335G= MANE Select	ENSP00000301067.7:p.Ala2779=
ENST00000301067.11:c.8335G=	ENSP00000301067.7:p.Ala2779=
ENST00000549799.1:n.47G=
NM_003482.3:c.8335G=	NP_003473.3:p.Ala2779=
XM_005269162.3:c.8335G=	XP_005269219.1:p.Ala2779=
XM_006719614.2:c.8344G=	XP_006719677.1:p.Ala2782=
XM_006719616.2:c.8332G=	XP_006719679.1:p.Ala2778=
XM_011538770.1:c.8344G=	XP_011537072.1:p.Ala2782=
XM_011538771.1:c.8341G=	XP_011537073.1:p.Ala2781=
XM_011538772.1:c.8335G=	XP_011537074.1:p.Ala2779=
XM_011538773.1:c.8332G=	XP_011537075.1:p.Ala2778=
XM_011538774.1:c.8323G=	XP_011537076.1:p.Ala2775=
XM_011538775.1:c.8344G=	XP_011537077.1:p.Ala2782=
XM_011538776.1:c.8251G=	XP_011537078.1:p.Ala2751=
XR_944740.1:n.10664G=
XM_005269162.4:c.8335G=	XP_005269219.1:p.Ala2779=
XM_006719614.4:c.8344G=	XP_006719677.1:p.Ala2782=
XM_006719616.3:c.8332G=	XP_006719679.1:p.Ala2778=
XM_011538770.2:c.8344G=	XP_011537072.1:p.Ala2782=
XM_011538771.2:c.8341G=	XP_011537073.1:p.Ala2781=
XM_011538772.2:c.8335G=	XP_011537074.1:p.Ala2779=
XM_011538773.2:c.8332G=	XP_011537075.1:p.Ala2778=
XM_011538774.2:c.8323G=	XP_011537076.1:p.Ala2775=
XM_011538776.2:c.8251G=	XP_011537078.1:p.Ala2751=
XR_001748874.1:n.9653G=
NM_003482.4:c.8335G= MANE Select	NP_003473.3:p.Ala2779=