Canonical Allele Identifier: CA10603301

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 280126
• ClinVar RCV Id: RCV000283712 ; RCV000578361 ; RCV000557296
• dbSNP Id: rs886041398
• COSMIC: COSM88090 ; COSM220684
• MyVariant Identifiers: chr12:g.49415846G>A (hg19) ; chr12:g.49022063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022063G>A , CM000674.2:g.49022063G>A	GRCh38
NC_000012.11:g.49415846G>A , CM000674.1:g.49415846G>A	GRCh37
NC_000012.10:g.47702113G>A	NCBI36
NG_027827.1:g.38262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.471C>T
ENST00000681974.1:n.1173C>T
ENST00000682693.1:n.2135C>T
ENST00000682886.1:n.907C>T
ENST00000683543.2:c.16549C>T	ENSP00000506726.1:p.Arg5517Ter
ENST00000683988.1:c.472C>T	ENSP00000506939.1:p.Arg158Ter
ENST00000684428.1:c.1094C>T	ENSP00000507433.1:n.1094C>T
ENST00000685024.1:c.1655C>T
ENST00000685166.1:c.16510C>T	ENSP00000509386.1:p.Arg5504Ter
ENST00000691932.1:c.502C>T	ENSP00000509037.1:p.Arg168Ter
ENST00000692637.1:c.16498C>T	ENSP00000509666.1:p.Arg5500Ter
ENST00000301067.12:c.16501C>T MANE Select	ENSP00000301067.7:p.Arg5501Ter
ENST00000301067.11:c.16501C>T	ENSP00000301067.7:p.Arg5501Ter
ENST00000526209.1:c.544C>T	ENSP00000435714.1:p.Arg182Ter
NM_003482.3:c.16501C>T	NP_003473.3:p.Arg5501Ter
XM_005269162.3:c.16501C>T	XP_005269219.1:p.Arg5501Ter
XM_006719614.2:c.16510C>T	XP_006719677.1:p.Arg5504Ter
XM_006719616.2:c.16498C>T	XP_006719679.1:p.Arg5500Ter
XM_011538770.1:c.16558C>T	XP_011537072.1:p.Arg5520Ter
XM_011538771.1:c.16555C>T	XP_011537073.1:p.Arg5519Ter
XM_011538772.1:c.16549C>T	XP_011537074.1:p.Arg5517Ter
XM_011538773.1:c.16546C>T	XP_011537075.1:p.Arg5516Ter
XM_011538774.1:c.16537C>T	XP_011537076.1:p.Arg5513Ter
XM_011538775.1:c.16492C>T	XP_011537077.1:p.Arg5498Ter
XM_011538776.1:c.16465C>T	XP_011537078.1:p.Arg5489Ter
XM_005269162.4:c.16501C>T	XP_005269219.1:p.Arg5501Ter
XM_006719614.4:c.16510C>T	XP_006719677.1:p.Arg5504Ter
XM_006719616.3:c.16498C>T	XP_006719679.1:p.Arg5500Ter
XM_011538770.2:c.16558C>T	XP_011537072.1:p.Arg5520Ter
XM_011538771.2:c.16555C>T	XP_011537073.1:p.Arg5519Ter
XM_011538772.2:c.16549C>T	XP_011537074.1:p.Arg5517Ter
XM_011538773.2:c.16546C>T	XP_011537075.1:p.Arg5516Ter
XM_011538774.2:c.16537C>T	XP_011537076.1:p.Arg5513Ter
XM_011538776.2:c.16465C>T	XP_011537078.1:p.Arg5489Ter
XR_001748874.1:n.16678C>T
NM_003482.4:c.16501C>T MANE Select	NP_003473.3:p.Arg5501Ter