Canonical Allele Identifier: CA384743612

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120511975
• MyVariant Identifiers: chr12:g.49433279T>A (hg19) ; chr12:g.49039496T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039496T>A , CM000674.2:g.49039496T>A	GRCh38
NC_000012.11:g.49433279T>A , CM000674.1:g.49433279T>A	GRCh37
NC_000012.10:g.47719546T>A	NCBI36
NG_027827.1:g.20829A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8168A>T	ENSP00000506726.1:p.Glu2723Val
ENST00000685166.1:c.8177A>T	ENSP00000509386.1:p.Glu2726Val
ENST00000689060.1:c.2187A>T
ENST00000689143.1:c.1841A>T	ENSP00000509839.1:p.Glu614Val
ENST00000689944.1:c.2277A>T
ENST00000692637.1:c.8165A>T	ENSP00000509666.1:p.Glu2722Val
ENST00000301067.12:c.8168A>T MANE Select	ENSP00000301067.7:p.Glu2723Val
ENST00000301067.11:c.8168A>T	ENSP00000301067.7:p.Glu2723Val
NM_003482.3:c.8168A>T	NP_003473.3:p.Glu2723Val
XM_005269162.3:c.8168A>T	XP_005269219.1:p.Glu2723Val
XM_006719614.2:c.8177A>T	XP_006719677.1:p.Glu2726Val
XM_006719616.2:c.8165A>T	XP_006719679.1:p.Glu2722Val
XM_011538770.1:c.8177A>T	XP_011537072.1:p.Glu2726Val
XM_011538771.1:c.8174A>T	XP_011537073.1:p.Glu2725Val
XM_011538772.1:c.8168A>T	XP_011537074.1:p.Glu2723Val
XM_011538773.1:c.8165A>T	XP_011537075.1:p.Glu2722Val
XM_011538774.1:c.8156A>T	XP_011537076.1:p.Glu2719Val
XM_011538775.1:c.8177A>T	XP_011537077.1:p.Glu2726Val
XM_011538776.1:c.8084A>T	XP_011537078.1:p.Glu2695Val
XR_944740.1:n.10497A>T
XM_005269162.4:c.8168A>T	XP_005269219.1:p.Glu2723Val
XM_006719614.4:c.8177A>T	XP_006719677.1:p.Glu2726Val
XM_006719616.3:c.8165A>T	XP_006719679.1:p.Glu2722Val
XM_011538770.2:c.8177A>T	XP_011537072.1:p.Glu2726Val
XM_011538771.2:c.8174A>T	XP_011537073.1:p.Glu2725Val
XM_011538772.2:c.8168A>T	XP_011537074.1:p.Glu2723Val
XM_011538773.2:c.8165A>T	XP_011537075.1:p.Glu2722Val
XM_011538774.2:c.8156A>T	XP_011537076.1:p.Glu2719Val
XM_011538776.2:c.8084A>T	XP_011537078.1:p.Glu2695Val
XR_001748874.1:n.9486A>T
NM_003482.4:c.8168A>T MANE Select	NP_003473.3:p.Glu2723Val