Canonical Allele Identifier: CA384682689

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1313244
• ClinVar RCV Id: RCV001769195
• dbSNP Id: rs2137711517
• MyVariant Identifiers: chr12:g.49418625T>A (hg19) ; chr12:g.49024842T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024842T>A , CM000674.2:g.49024842T>A	GRCh38
NC_000012.11:g.49418625T>A , CM000674.1:g.49418625T>A	GRCh37
NC_000012.10:g.47704892T>A	NCBI36
NG_027827.1:g.35483A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.561A>T
ENST00000683543.2:c.15889A>T	ENSP00000506726.1:p.Thr5297Ser
ENST00000683863.1:n.1604A>T
ENST00000684428.1:c.424A>T	ENSP00000507433.1:p.Thr142Ser
ENST00000684755.1:n.424A>T
ENST00000685024.1:c.1014A>T
ENST00000685166.1:c.15898A>T	ENSP00000509386.1:p.Thr5300Ser
ENST00000688411.1:c.366A>T	ENSP00000510146.1:n.366A>T
ENST00000691463.1:c.1275A>T	ENSP00000510624.1:n.1275A>T
ENST00000692637.1:c.15886A>T	ENSP00000509666.1:p.Thr5296Ser
ENST00000301067.12:c.15889A>T MANE Select	ENSP00000301067.7:p.Thr5297Ser
ENST00000301067.11:c.15889A>T	ENSP00000301067.7:p.Thr5297Ser
NM_003482.3:c.15889A>T	NP_003473.3:p.Thr5297Ser
XM_005269162.3:c.15889A>T	XP_005269219.1:p.Thr5297Ser
XM_006719614.2:c.15898A>T	XP_006719677.1:p.Thr5300Ser
XM_006719616.2:c.15886A>T	XP_006719679.1:p.Thr5296Ser
XM_011538770.1:c.15898A>T	XP_011537072.1:p.Thr5300Ser
XM_011538771.1:c.15895A>T	XP_011537073.1:p.Thr5299Ser
XM_011538772.1:c.15889A>T	XP_011537074.1:p.Thr5297Ser
XM_011538773.1:c.15886A>T	XP_011537075.1:p.Thr5296Ser
XM_011538774.1:c.15877A>T	XP_011537076.1:p.Thr5293Ser
XM_011538775.1:c.15832A>T	XP_011537077.1:p.Thr5278Ser
XM_011538776.1:c.15805A>T	XP_011537078.1:p.Thr5269Ser
XR_944740.1:n.17077A>T
XM_005269162.4:c.15889A>T	XP_005269219.1:p.Thr5297Ser
XM_006719614.4:c.15898A>T	XP_006719677.1:p.Thr5300Ser
XM_006719616.3:c.15886A>T	XP_006719679.1:p.Thr5296Ser
XM_011538770.2:c.15898A>T	XP_011537072.1:p.Thr5300Ser
XM_011538771.2:c.15895A>T	XP_011537073.1:p.Thr5299Ser
XM_011538772.2:c.15889A>T	XP_011537074.1:p.Thr5297Ser
XM_011538773.2:c.15886A>T	XP_011537075.1:p.Thr5296Ser
XM_011538774.2:c.15877A>T	XP_011537076.1:p.Thr5293Ser
XM_011538776.2:c.15805A>T	XP_011537078.1:p.Thr5269Ser
XR_001748874.1:n.16066A>T
NM_003482.4:c.15889A>T MANE Select	NP_003473.3:p.Thr5297Ser