Canonical Allele Identifier: CA384675487

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49021863C>G , CM000674.2:g.49021863C>G	GRCh38
NC_000012.11:g.49415646C>G , CM000674.1:g.49415646C>G	GRCh37
NC_000012.10:g.47701913C>G	NCBI36
NG_027827.1:g.38462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.501G>C
ENST00000681974.1:n.1203G>C
ENST00000682693.1:n.2165G>C
ENST00000682886.1:n.937G>C
ENST00000683543.2:c.16579G>C	ENSP00000506726.1:p.Asp5527His
ENST00000683988.1:c.502G>C	ENSP00000506939.1:p.Asp168His
ENST00000684428.1:c.1294G>C	ENSP00000507433.1:n.1294G>C
ENST00000685024.1:c.1685G>C
ENST00000685166.1:c.16540G>C	ENSP00000509386.1:p.Asp5514His
ENST00000691932.1:c.532G>C	ENSP00000509037.1:p.Asp178His
ENST00000692637.1:c.16528G>C	ENSP00000509666.1:p.Asp5510His
ENST00000301067.12:c.16531G>C MANE Select	ENSP00000301067.7:p.Asp5511His
ENST00000301067.11:c.16531G>C	ENSP00000301067.7:p.Asp5511His
ENST00000526209.1:c.574G>C	ENSP00000435714.1:p.Asp192His
NM_003482.3:c.16531G>C	NP_003473.3:p.Asp5511His
XM_005269162.3:c.16531G>C	XP_005269219.1:p.Asp5511His
XM_006719614.2:c.16540G>C	XP_006719677.1:p.Asp5514His
XM_006719616.2:c.16528G>C	XP_006719679.1:p.Asp5510His
XM_011538770.1:c.16588G>C	XP_011537072.1:p.Asp5530His
XM_011538771.1:c.16585G>C	XP_011537073.1:p.Asp5529His
XM_011538772.1:c.16579G>C	XP_011537074.1:p.Asp5527His
XM_011538773.1:c.16576G>C	XP_011537075.1:p.Asp5526His
XM_011538774.1:c.16567G>C	XP_011537076.1:p.Asp5523His
XM_011538775.1:c.16522G>C	XP_011537077.1:p.Asp5508His
XM_011538776.1:c.16495G>C	XP_011537078.1:p.Asp5499His
XM_005269162.4:c.16531G>C	XP_005269219.1:p.Asp5511His
XM_006719614.4:c.16540G>C	XP_006719677.1:p.Asp5514His
XM_006719616.3:c.16528G>C	XP_006719679.1:p.Asp5510His
XM_011538770.2:c.16588G>C	XP_011537072.1:p.Asp5530His
XM_011538771.2:c.16585G>C	XP_011537073.1:p.Asp5529His
XM_011538772.2:c.16579G>C	XP_011537074.1:p.Asp5527His
XM_011538773.2:c.16576G>C	XP_011537075.1:p.Asp5526His
XM_011538774.2:c.16567G>C	XP_011537076.1:p.Asp5523His
XM_011538776.2:c.16495G>C	XP_011537078.1:p.Asp5499His
XR_001748874.1:n.16708G>C
NM_003482.4:c.16531G>C MANE Select	NP_003473.3:p.Asp5511His