Canonical Allele Identifier: CA384677354

Gene: KMT2D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.301A>G
ENST00000681974.1:n.1003A>G
ENST00000682693.1:n.1965A>G
ENST00000682886.1:n.501A>G
ENST00000683543.2:c.16379A>G	ENSP00000506726.1:p.Glu5460Gly
ENST00000683988.1:c.302A>G	ENSP00000506939.1:p.Glu101Gly
ENST00000684428.1:c.866A>G	ENSP00000507433.1:p.Glu289Gly
ENST00000684755.1:n.914A>G
ENST00000685024.1:c.1485A>G
ENST00000685166.1:c.16340A>G	ENSP00000509386.1:p.Glu5447Gly
ENST00000688411.1:c.808A>G	ENSP00000510146.1:n.808A>G
ENST00000691932.1:c.332A>G	ENSP00000509037.1:p.Glu111Gly
ENST00000692637.1:c.16328A>G	ENSP00000509666.1:p.Glu5443Gly
ENST00000301067.12:c.16331A>G MANE Select	ENSP00000301067.7:p.Glu5444Gly
ENST00000301067.11:c.16331A>G	ENSP00000301067.7:p.Glu5444Gly
ENST00000526209.1:c.374A>G	ENSP00000435714.1:p.Glu125Gly
NM_003482.3:c.16331A>G	NP_003473.3:p.Glu5444Gly
XM_005269162.3:c.16331A>G	XP_005269219.1:p.Glu5444Gly
XM_006719614.2:c.16340A>G	XP_006719677.1:p.Glu5447Gly
XM_006719616.2:c.16328A>G	XP_006719679.1:p.Glu5443Gly
XM_011538770.1:c.16388A>G	XP_011537072.1:p.Glu5463Gly
XM_011538771.1:c.16385A>G	XP_011537073.1:p.Glu5462Gly
XM_011538772.1:c.16379A>G	XP_011537074.1:p.Glu5460Gly
XM_011538773.1:c.16376A>G	XP_011537075.1:p.Glu5459Gly
XM_011538774.1:c.16367A>G	XP_011537076.1:p.Glu5456Gly
XM_011538775.1:c.16322A>G	XP_011537077.1:p.Glu5441Gly
XM_011538776.1:c.16295A>G	XP_011537078.1:p.Glu5432Gly
XM_005269162.4:c.16331A>G	XP_005269219.1:p.Glu5444Gly
XM_006719614.4:c.16340A>G	XP_006719677.1:p.Glu5447Gly
XM_006719616.3:c.16328A>G	XP_006719679.1:p.Glu5443Gly
XM_011538770.2:c.16388A>G	XP_011537072.1:p.Glu5463Gly
XM_011538771.2:c.16385A>G	XP_011537073.1:p.Glu5462Gly
XM_011538772.2:c.16379A>G	XP_011537074.1:p.Glu5460Gly
XM_011538773.2:c.16376A>G	XP_011537075.1:p.Glu5459Gly
XM_011538774.2:c.16367A>G	XP_011537076.1:p.Glu5456Gly
XM_011538776.2:c.16295A>G	XP_011537078.1:p.Glu5432Gly
XR_001748874.1:n.16508A>G
NM_003482.4:c.16331A>G MANE Select	NP_003473.3:p.Glu5444Gly