Canonical Allele Identifier: CA384675614

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022043C>G , CM000674.2:g.49022043C>G	GRCh38
NC_000012.11:g.49415826C>G , CM000674.1:g.49415826C>G	GRCh37
NC_000012.10:g.47702093C>G	NCBI36
NG_027827.1:g.38282G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16521G>C MANE Select	NP_003473.3:p.Glu5507Asp
ENST00000301067.12:c.16521G>C MANE Select	ENSP00000301067.7:p.Glu5507Asp
NM_003482.3:c.16521G>C	NP_003473.3:p.Glu5507Asp
ENST00000301067.11:c.16521G>C	ENSP00000301067.7:p.Glu5507Asp
ENST00000526209.1:c.564G>C	ENSP00000435714.1:p.Glu188Asp
ENST00000526209.2:c.491G>C
ENST00000681974.1:n.1193G>C
ENST00000682693.1:n.2155G>C
ENST00000682886.1:n.927G>C
ENST00000683543.2:c.16569G>C	ENSP00000506726.1:p.Glu5523Asp
ENST00000683988.1:c.492G>C	ENSP00000506939.1:p.Glu164Asp
ENST00000684428.1:c.1114G>C	ENSP00000507433.1:n.1114G>C
ENST00000685024.1:c.1675G>C
ENST00000685166.1:c.16530G>C	ENSP00000509386.1:p.Glu5510Asp
ENST00000691932.1:c.522G>C	ENSP00000509037.1:p.Glu174Asp
ENST00000692637.1:c.16518G>C	ENSP00000509666.1:p.Glu5506Asp
XM_005269162.3:c.16521G>C	XP_005269219.1:p.Glu5507Asp
XM_005269162.4:c.16521G>C	XP_005269219.1:p.Glu5507Asp
XM_006719614.2:c.16530G>C	XP_006719677.1:p.Glu5510Asp
XM_006719614.4:c.16530G>C	XP_006719677.1:p.Glu5510Asp
XM_006719616.2:c.16518G>C	XP_006719679.1:p.Glu5506Asp
XM_006719616.3:c.16518G>C	XP_006719679.1:p.Glu5506Asp
XM_011538770.1:c.16578G>C	XP_011537072.1:p.Glu5526Asp
XM_011538770.2:c.16578G>C	XP_011537072.1:p.Glu5526Asp
XM_011538771.1:c.16575G>C	XP_011537073.1:p.Glu5525Asp
XM_011538771.2:c.16575G>C	XP_011537073.1:p.Glu5525Asp
XM_011538772.1:c.16569G>C	XP_011537074.1:p.Glu5523Asp
XM_011538772.2:c.16569G>C	XP_011537074.1:p.Glu5523Asp
XM_011538773.1:c.16566G>C	XP_011537075.1:p.Glu5522Asp
XM_011538773.2:c.16566G>C	XP_011537075.1:p.Glu5522Asp
XM_011538774.1:c.16557G>C	XP_011537076.1:p.Glu5519Asp
XM_011538774.2:c.16557G>C	XP_011537076.1:p.Glu5519Asp
XM_011538775.1:c.16512G>C	XP_011537077.1:p.Glu5504Asp
XM_011538776.1:c.16485G>C	XP_011537078.1:p.Glu5495Asp
XM_011538776.2:c.16485G>C	XP_011537078.1:p.Glu5495Asp
XR_001748874.1:n.16698G>C