Canonical Allele Identifier: CA271606

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158739
• ClinVar RCV Id: RCV000146180 ; RCV001849983
• dbSNP Id: rs587783698
• gnomAD v4: 12-49024887-G-A
• COSMIC: COSM221132 ; COSM221133
• MyVariant Identifiers: chr12:g.49418670G>A (hg19) ; chr12:g.49024887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024887G>A , CM000674.2:g.49024887G>A	GRCh38
NC_000012.11:g.49418670G>A , CM000674.1:g.49418670G>A	GRCh37
NC_000012.10:g.47704937G>A	NCBI36
NG_027827.1:g.35438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.516C>T
ENST00000683543.2:c.15844C>T	ENSP00000506726.1:p.Arg5282Ter
ENST00000683863.1:n.1559C>T
ENST00000684428.1:c.379C>T	ENSP00000507433.1:p.Arg127Ter
ENST00000684755.1:n.379C>T
ENST00000685024.1:c.969C>T
ENST00000685166.1:c.15853C>T	ENSP00000509386.1:p.Arg5285Ter
ENST00000688411.1:c.321C>T	ENSP00000510146.1:n.321C>T
ENST00000691463.1:c.1230C>T	ENSP00000510624.1:n.1230C>T
ENST00000692637.1:c.15841C>T	ENSP00000509666.1:p.Arg5281Ter
ENST00000301067.12:c.15844C>T MANE Select	ENSP00000301067.7:p.Arg5282Ter
ENST00000301067.11:c.15844C>T	ENSP00000301067.7:p.Arg5282Ter
NM_003482.3:c.15844C>T	NP_003473.3:p.Arg5282Ter
XM_005269162.3:c.15844C>T	XP_005269219.1:p.Arg5282Ter
XM_006719614.2:c.15853C>T	XP_006719677.1:p.Arg5285Ter
XM_006719616.2:c.15841C>T	XP_006719679.1:p.Arg5281Ter
XM_011538770.1:c.15853C>T	XP_011537072.1:p.Arg5285Ter
XM_011538771.1:c.15850C>T	XP_011537073.1:p.Arg5284Ter
XM_011538772.1:c.15844C>T	XP_011537074.1:p.Arg5282Ter
XM_011538773.1:c.15841C>T	XP_011537075.1:p.Arg5281Ter
XM_011538774.1:c.15832C>T	XP_011537076.1:p.Arg5278Ter
XM_011538775.1:c.15787C>T	XP_011537077.1:p.Arg5263Ter
XM_011538776.1:c.15760C>T	XP_011537078.1:p.Arg5254Ter
XR_944740.1:n.17032C>T
XM_005269162.4:c.15844C>T	XP_005269219.1:p.Arg5282Ter
XM_006719614.4:c.15853C>T	XP_006719677.1:p.Arg5285Ter
XM_006719616.3:c.15841C>T	XP_006719679.1:p.Arg5281Ter
XM_011538770.2:c.15853C>T	XP_011537072.1:p.Arg5285Ter
XM_011538771.2:c.15850C>T	XP_011537073.1:p.Arg5284Ter
XM_011538772.2:c.15844C>T	XP_011537074.1:p.Arg5282Ter
XM_011538773.2:c.15841C>T	XP_011537075.1:p.Arg5281Ter
XM_011538774.2:c.15832C>T	XP_011537076.1:p.Arg5278Ter
XM_011538776.2:c.15760C>T	XP_011537078.1:p.Arg5254Ter
XR_001748874.1:n.16021C>T
NM_003482.4:c.15844C>T MANE Select	NP_003473.3:p.Arg5282Ter