Canonical Allele Identifier: CA6547141

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040769C>T , CM000674.2:g.49040769C>T	GRCh38
NC_000012.11:g.49434552C>T , CM000674.1:g.49434552C>T	GRCh37
NC_000012.10:g.47720819C>T	NCBI36
NG_027827.1:g.19556G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7001G>A MANE Select	NP_003473.3:p.Arg2334Gln
ENST00000301067.12:c.7001G>A MANE Select	ENSP00000301067.7:p.Arg2334Gln
NM_003482.3:c.7001G>A	NP_003473.3:p.Arg2334Gln
ENST00000301067.11:c.7001G>A	ENSP00000301067.7:p.Arg2334Gln
ENST00000683543.2:c.7001G>A	ENSP00000506726.1:p.Arg2334Gln
ENST00000685166.1:c.7010G>A	ENSP00000509386.1:p.Arg2337Gln
ENST00000689060.1:c.1020G>A
ENST00000689143.1:c.674G>A	ENSP00000509839.1:p.Arg225Gln
ENST00000689944.1:c.1110G>A
ENST00000692637.1:c.6998G>A	ENSP00000509666.1:p.Arg2333Gln
XM_005269162.3:c.7001G>A	XP_005269219.1:p.Arg2334Gln
XM_005269162.4:c.7001G>A	XP_005269219.1:p.Arg2334Gln
XM_006719614.2:c.7010G>A	XP_006719677.1:p.Arg2337Gln
XM_006719614.4:c.7010G>A	XP_006719677.1:p.Arg2337Gln
XM_006719616.2:c.6998G>A	XP_006719679.1:p.Arg2333Gln
XM_006719616.3:c.6998G>A	XP_006719679.1:p.Arg2333Gln
XM_011538770.1:c.7010G>A	XP_011537072.1:p.Arg2337Gln
XM_011538770.2:c.7010G>A	XP_011537072.1:p.Arg2337Gln
XM_011538771.1:c.7007G>A	XP_011537073.1:p.Arg2336Gln
XM_011538771.2:c.7007G>A	XP_011537073.1:p.Arg2336Gln
XM_011538772.1:c.7001G>A	XP_011537074.1:p.Arg2334Gln
XM_011538772.2:c.7001G>A	XP_011537074.1:p.Arg2334Gln
XM_011538773.1:c.6998G>A	XP_011537075.1:p.Arg2333Gln
XM_011538773.2:c.6998G>A	XP_011537075.1:p.Arg2333Gln
XM_011538774.1:c.6989G>A	XP_011537076.1:p.Arg2330Gln
XM_011538774.2:c.6989G>A	XP_011537076.1:p.Arg2330Gln
XM_011538775.1:c.7010G>A	XP_011537077.1:p.Arg2337Gln
XM_011538776.1:c.6917G>A	XP_011537078.1:p.Arg2306Gln
XM_011538776.2:c.6917G>A	XP_011537078.1:p.Arg2306Gln
XR_001748874.1:n.8319G>A
XR_944740.1:n.9330G>A