Canonical Allele Identifier: CA384682623

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711484
• MyVariant Identifiers: chr12:g.49418619G>A (hg19) ; chr12:g.49024836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024836G>A , CM000674.2:g.49024836G>A	GRCh38
NC_000012.11:g.49418619G>A , CM000674.1:g.49418619G>A	GRCh37
NC_000012.10:g.47704886G>A	NCBI36
NG_027827.1:g.35489C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.567C>T
ENST00000683543.2:c.15895C>T	ENSP00000506726.1:p.His5299Tyr
ENST00000683863.1:n.1610C>T
ENST00000684428.1:c.430C>T	ENSP00000507433.1:p.His144Tyr
ENST00000684755.1:n.430C>T
ENST00000685024.1:c.1020C>T
ENST00000685166.1:c.15904C>T	ENSP00000509386.1:p.His5302Tyr
ENST00000688411.1:c.372C>T	ENSP00000510146.1:n.372C>T
ENST00000691463.1:c.1281C>T	ENSP00000510624.1:n.1281C>T
ENST00000692637.1:c.15892C>T	ENSP00000509666.1:p.His5298Tyr
ENST00000301067.12:c.15895C>T MANE Select	ENSP00000301067.7:p.His5299Tyr
ENST00000301067.11:c.15895C>T	ENSP00000301067.7:p.His5299Tyr
NM_003482.3:c.15895C>T	NP_003473.3:p.His5299Tyr
XM_005269162.3:c.15895C>T	XP_005269219.1:p.His5299Tyr
XM_006719614.2:c.15904C>T	XP_006719677.1:p.His5302Tyr
XM_006719616.2:c.15892C>T	XP_006719679.1:p.His5298Tyr
XM_011538770.1:c.15904C>T	XP_011537072.1:p.His5302Tyr
XM_011538771.1:c.15901C>T	XP_011537073.1:p.His5301Tyr
XM_011538772.1:c.15895C>T	XP_011537074.1:p.His5299Tyr
XM_011538773.1:c.15892C>T	XP_011537075.1:p.His5298Tyr
XM_011538774.1:c.15883C>T	XP_011537076.1:p.His5295Tyr
XM_011538775.1:c.15838C>T	XP_011537077.1:p.His5280Tyr
XM_011538776.1:c.15811C>T	XP_011537078.1:p.His5271Tyr
XR_944740.1:n.17083C>T
XM_005269162.4:c.15895C>T	XP_005269219.1:p.His5299Tyr
XM_006719614.4:c.15904C>T	XP_006719677.1:p.His5302Tyr
XM_006719616.3:c.15892C>T	XP_006719679.1:p.His5298Tyr
XM_011538770.2:c.15904C>T	XP_011537072.1:p.His5302Tyr
XM_011538771.2:c.15901C>T	XP_011537073.1:p.His5301Tyr
XM_011538772.2:c.15895C>T	XP_011537074.1:p.His5299Tyr
XM_011538773.2:c.15892C>T	XP_011537075.1:p.His5298Tyr
XM_011538774.2:c.15883C>T	XP_011537076.1:p.His5295Tyr
XM_011538776.2:c.15811C>T	XP_011537078.1:p.His5271Tyr
XR_001748874.1:n.16072C>T
NM_003482.4:c.15895C>T MANE Select	NP_003473.3:p.His5299Tyr