Canonical Allele Identifier: CA384677358

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706169
• MyVariant Identifiers: chr12:g.49416380T>G (hg19) ; chr12:g.49022597T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022597T>G , CM000674.2:g.49022597T>G	GRCh38
NC_000012.11:g.49416380T>G , CM000674.1:g.49416380T>G	GRCh37
NC_000012.10:g.47702647T>G	NCBI36
NG_027827.1:g.37728A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.301A>C
ENST00000681974.1:n.1003A>C
ENST00000682693.1:n.1965A>C
ENST00000682886.1:n.501A>C
ENST00000683543.2:c.16379A>C	ENSP00000506726.1:p.Glu5460Ala
ENST00000683988.1:c.302A>C	ENSP00000506939.1:p.Glu101Ala
ENST00000684428.1:c.866A>C	ENSP00000507433.1:p.Glu289Ala
ENST00000684755.1:n.914A>C
ENST00000685024.1:c.1485A>C
ENST00000685166.1:c.16340A>C	ENSP00000509386.1:p.Glu5447Ala
ENST00000688411.1:c.808A>C	ENSP00000510146.1:n.808A>C
ENST00000691932.1:c.332A>C	ENSP00000509037.1:p.Glu111Ala
ENST00000692637.1:c.16328A>C	ENSP00000509666.1:p.Glu5443Ala
ENST00000301067.12:c.16331A>C MANE Select	ENSP00000301067.7:p.Glu5444Ala
ENST00000301067.11:c.16331A>C	ENSP00000301067.7:p.Glu5444Ala
ENST00000526209.1:c.374A>C	ENSP00000435714.1:p.Glu125Ala
NM_003482.3:c.16331A>C	NP_003473.3:p.Glu5444Ala
XM_005269162.3:c.16331A>C	XP_005269219.1:p.Glu5444Ala
XM_006719614.2:c.16340A>C	XP_006719677.1:p.Glu5447Ala
XM_006719616.2:c.16328A>C	XP_006719679.1:p.Glu5443Ala
XM_011538770.1:c.16388A>C	XP_011537072.1:p.Glu5463Ala
XM_011538771.1:c.16385A>C	XP_011537073.1:p.Glu5462Ala
XM_011538772.1:c.16379A>C	XP_011537074.1:p.Glu5460Ala
XM_011538773.1:c.16376A>C	XP_011537075.1:p.Glu5459Ala
XM_011538774.1:c.16367A>C	XP_011537076.1:p.Glu5456Ala
XM_011538775.1:c.16322A>C	XP_011537077.1:p.Glu5441Ala
XM_011538776.1:c.16295A>C	XP_011537078.1:p.Glu5432Ala
XM_005269162.4:c.16331A>C	XP_005269219.1:p.Glu5444Ala
XM_006719614.4:c.16340A>C	XP_006719677.1:p.Glu5447Ala
XM_006719616.3:c.16328A>C	XP_006719679.1:p.Glu5443Ala
XM_011538770.2:c.16388A>C	XP_011537072.1:p.Glu5463Ala
XM_011538771.2:c.16385A>C	XP_011537073.1:p.Glu5462Ala
XM_011538772.2:c.16379A>C	XP_011537074.1:p.Glu5460Ala
XM_011538773.2:c.16376A>C	XP_011537075.1:p.Glu5459Ala
XM_011538774.2:c.16367A>C	XP_011537076.1:p.Glu5456Ala
XM_011538776.2:c.16295A>C	XP_011537078.1:p.Glu5432Ala
XR_001748874.1:n.16508A>C
NM_003482.4:c.16331A>C MANE Select	NP_003473.3:p.Glu5444Ala