Canonical Allele Identifier: CA658797904

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 520704
• ClinVar RCV Id: RCV000623674
• dbSNP Id: rs1555184787
• MyVariant Identifiers: chr12:g.49416375dup (hg19) ; chr12:g.49022592dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022592dup , CM000674.2:g.49022592dup	GRCh38
NC_000012.11:g.49416375dup , CM000674.1:g.49416375dup	GRCh37
NC_000012.10:g.47702642dup	NCBI36
NG_027827.1:g.37733dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.306dup
ENST00000681974.1:n.1008dup
ENST00000682693.1:n.1970dup
ENST00000682886.1:n.506dup
ENST00000683543.2:c.16384dup	ENSP00000506726.1:p.Gln5462ProfsTer13
ENST00000683988.1:c.307dup	ENSP00000506939.1:p.Gln103ProfsTer13
ENST00000684428.1:c.871dup	ENSP00000507433.1:p.Gln291ProfsTer8
ENST00000684755.1:n.919dup
ENST00000685024.1:c.1490dup
ENST00000685166.1:c.16345dup	ENSP00000509386.1:p.Gln5449ProfsTer13
ENST00000688411.1:c.813dup	ENSP00000510146.1:n.813dup
ENST00000691932.1:c.337dup	ENSP00000509037.1:p.Gln113ProfsTer13
ENST00000692637.1:c.16333dup	ENSP00000509666.1:p.Gln5445ProfsTer13
ENST00000301067.12:c.16336dup MANE Select	ENSP00000301067.7:p.Gln5446ProfsTer13
ENST00000301067.11:c.16336dup	ENSP00000301067.7:p.Gln5446ProfsTer13
ENST00000526209.1:c.379dup	ENSP00000435714.1:p.Gln127ProfsTer13
NM_003482.3:c.16336dup	NP_003473.3:p.Gln5446ProfsTer13
XM_005269162.3:c.16336dup	XP_005269219.1:p.Gln5446ProfsTer13
XM_006719614.2:c.16345dup	XP_006719677.1:p.Gln5449ProfsTer13
XM_006719616.2:c.16333dup	XP_006719679.1:p.Gln5445ProfsTer13
XM_011538770.1:c.16393dup	XP_011537072.1:p.Gln5465ProfsTer13
XM_011538771.1:c.16390dup	XP_011537073.1:p.Gln5464ProfsTer13
XM_011538772.1:c.16384dup	XP_011537074.1:p.Gln5462ProfsTer13
XM_011538773.1:c.16381dup	XP_011537075.1:p.Gln5461ProfsTer13
XM_011538774.1:c.16372dup	XP_011537076.1:p.Gln5458ProfsTer13
XM_011538775.1:c.16327dup	XP_011537077.1:p.Gln5443ProfsTer13
XM_011538776.1:c.16300dup	XP_011537078.1:p.Gln5434ProfsTer13
XM_005269162.4:c.16336dup	XP_005269219.1:p.Gln5446ProfsTer13
XM_006719614.4:c.16345dup	XP_006719677.1:p.Gln5449ProfsTer13
XM_006719616.3:c.16333dup	XP_006719679.1:p.Gln5445ProfsTer13
XM_011538770.2:c.16393dup	XP_011537072.1:p.Gln5465ProfsTer13
XM_011538771.2:c.16390dup	XP_011537073.1:p.Gln5464ProfsTer13
XM_011538772.2:c.16384dup	XP_011537074.1:p.Gln5462ProfsTer13
XM_011538773.2:c.16381dup	XP_011537075.1:p.Gln5461ProfsTer13
XM_011538774.2:c.16372dup	XP_011537076.1:p.Gln5458ProfsTer13
XM_011538776.2:c.16300dup	XP_011537078.1:p.Gln5434ProfsTer13
XR_001748874.1:n.16513dup
NM_003482.4:c.16336dup MANE Select	NP_003473.3:p.Gln5446ProfsTer13