Canonical Allele Identifier: CA384678830

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022774G>C , CM000674.2:g.49022774G>C	GRCh38
NC_000012.11:g.49416557G>C , CM000674.1:g.49416557G>C	GRCh37
NC_000012.10:g.47702824G>C	NCBI36
NG_027827.1:g.37551C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16154C>G MANE Select	NP_003473.3:p.Ser5385Ter
ENST00000301067.12:c.16154C>G MANE Select	ENSP00000301067.7:p.Ser5385Ter
NM_003482.3:c.16154C>G	NP_003473.3:p.Ser5385Ter
ENST00000301067.11:c.16154C>G	ENSP00000301067.7:p.Ser5385Ter
ENST00000526209.1:c.197C>G	ENSP00000435714.1:p.Ser66Ter
ENST00000526209.2:c.124C>G
ENST00000681974.1:n.826C>G
ENST00000682693.1:n.1788C>G
ENST00000682886.1:n.324C>G
ENST00000683543.2:c.16202C>G	ENSP00000506726.1:p.Ser5401Ter
ENST00000683988.1:c.125C>G	ENSP00000506939.1:p.Ser42Ter
ENST00000684428.1:c.689C>G	ENSP00000507433.1:p.Ser230Ter
ENST00000684755.1:n.737C>G
ENST00000685024.1:c.1308C>G
ENST00000685166.1:c.16163C>G	ENSP00000509386.1:p.Ser5388Ter
ENST00000688411.1:c.631C>G	ENSP00000510146.1:n.631C>G
ENST00000691932.1:c.155C>G	ENSP00000509037.1:p.Ser52Ter
ENST00000692637.1:c.16151C>G	ENSP00000509666.1:p.Ser5384Ter
XM_005269162.3:c.16154C>G	XP_005269219.1:p.Ser5385Ter
XM_005269162.4:c.16154C>G	XP_005269219.1:p.Ser5385Ter
XM_006719614.2:c.16163C>G	XP_006719677.1:p.Ser5388Ter
XM_006719614.4:c.16163C>G	XP_006719677.1:p.Ser5388Ter
XM_006719616.2:c.16151C>G	XP_006719679.1:p.Ser5384Ter
XM_006719616.3:c.16151C>G	XP_006719679.1:p.Ser5384Ter
XM_011538770.1:c.16211C>G	XP_011537072.1:p.Ser5404Ter
XM_011538770.2:c.16211C>G	XP_011537072.1:p.Ser5404Ter
XM_011538771.1:c.16208C>G	XP_011537073.1:p.Ser5403Ter
XM_011538771.2:c.16208C>G	XP_011537073.1:p.Ser5403Ter
XM_011538772.1:c.16202C>G	XP_011537074.1:p.Ser5401Ter
XM_011538772.2:c.16202C>G	XP_011537074.1:p.Ser5401Ter
XM_011538773.1:c.16199C>G	XP_011537075.1:p.Ser5400Ter
XM_011538773.2:c.16199C>G	XP_011537075.1:p.Ser5400Ter
XM_011538774.1:c.16190C>G	XP_011537076.1:p.Ser5397Ter
XM_011538774.2:c.16190C>G	XP_011537076.1:p.Ser5397Ter
XM_011538775.1:c.16145C>G	XP_011537077.1:p.Ser5382Ter
XM_011538776.1:c.16118C>G	XP_011537078.1:p.Ser5373Ter
XM_011538776.2:c.16118C>G	XP_011537078.1:p.Ser5373Ter
XR_001748874.1:n.16331C>G