Canonical Allele Identifier: CA384675752

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 449044
• ClinVar RCV Id: RCV000523702 ; RCV001261320 ; RCV004541628
• dbSNP Id: rs1555184609
• MyVariant Identifiers: chr12:g.49415849G>A (hg19) ; chr12:g.49022066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022066G>A , CM000674.2:g.49022066G>A	GRCh38
NC_000012.11:g.49415849G>A , CM000674.1:g.49415849G>A	GRCh37
NC_000012.10:g.47702116G>A	NCBI36
NG_027827.1:g.38259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.468C>T
ENST00000681974.1:n.1170C>T
ENST00000682693.1:n.2132C>T
ENST00000682886.1:n.904C>T
ENST00000683543.2:c.16546C>T	ENSP00000506726.1:p.Arg5516Trp
ENST00000683988.1:c.469C>T	ENSP00000506939.1:p.Arg157Trp
ENST00000684428.1:c.1091C>T	ENSP00000507433.1:n.1091C>T
ENST00000685024.1:c.1652C>T
ENST00000685166.1:c.16507C>T	ENSP00000509386.1:p.Arg5503Trp
ENST00000691932.1:c.499C>T	ENSP00000509037.1:p.Arg167Trp
ENST00000692637.1:c.16495C>T	ENSP00000509666.1:p.Arg5499Trp
ENST00000301067.12:c.16498C>T MANE Select	ENSP00000301067.7:p.Arg5500Trp
ENST00000301067.11:c.16498C>T	ENSP00000301067.7:p.Arg5500Trp
ENST00000526209.1:c.541C>T	ENSP00000435714.1:p.Arg181Trp
NM_003482.3:c.16498C>T	NP_003473.3:p.Arg5500Trp
XM_005269162.3:c.16498C>T	XP_005269219.1:p.Arg5500Trp
XM_006719614.2:c.16507C>T	XP_006719677.1:p.Arg5503Trp
XM_006719616.2:c.16495C>T	XP_006719679.1:p.Arg5499Trp
XM_011538770.1:c.16555C>T	XP_011537072.1:p.Arg5519Trp
XM_011538771.1:c.16552C>T	XP_011537073.1:p.Arg5518Trp
XM_011538772.1:c.16546C>T	XP_011537074.1:p.Arg5516Trp
XM_011538773.1:c.16543C>T	XP_011537075.1:p.Arg5515Trp
XM_011538774.1:c.16534C>T	XP_011537076.1:p.Arg5512Trp
XM_011538775.1:c.16489C>T	XP_011537077.1:p.Arg5497Trp
XM_011538776.1:c.16462C>T	XP_011537078.1:p.Arg5488Trp
XM_005269162.4:c.16498C>T	XP_005269219.1:p.Arg5500Trp
XM_006719614.4:c.16507C>T	XP_006719677.1:p.Arg5503Trp
XM_006719616.3:c.16495C>T	XP_006719679.1:p.Arg5499Trp
XM_011538770.2:c.16555C>T	XP_011537072.1:p.Arg5519Trp
XM_011538771.2:c.16552C>T	XP_011537073.1:p.Arg5518Trp
XM_011538772.2:c.16546C>T	XP_011537074.1:p.Arg5516Trp
XM_011538773.2:c.16543C>T	XP_011537075.1:p.Arg5515Trp
XM_011538774.2:c.16534C>T	XP_011537076.1:p.Arg5512Trp
XM_011538776.2:c.16462C>T	XP_011537078.1:p.Arg5488Trp
XR_001748874.1:n.16675C>T
NM_003482.4:c.16498C>T MANE Select	NP_003473.3:p.Arg5500Trp