Canonical Allele Identifier: CA384682663

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024839-C-A
• COSMIC: COSM249288 ; COSM249289
• MyVariant Identifiers: chr12:g.49418622C>A (hg19) ; chr12:g.49024839C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024839C>A , CM000674.2:g.49024839C>A	GRCh38
NC_000012.11:g.49418622C>A , CM000674.1:g.49418622C>A	GRCh37
NC_000012.10:g.47704889C>A	NCBI36
NG_027827.1:g.35486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.564G>T
ENST00000683543.2:c.15892G>T	ENSP00000506726.1:p.Val5298Leu
ENST00000683863.1:n.1607G>T
ENST00000684428.1:c.427G>T	ENSP00000507433.1:p.Val143Leu
ENST00000684755.1:n.427G>T
ENST00000685024.1:c.1017G>T
ENST00000685166.1:c.15901G>T	ENSP00000509386.1:p.Val5301Leu
ENST00000688411.1:c.369G>T	ENSP00000510146.1:n.369G>T
ENST00000691463.1:c.1278G>T	ENSP00000510624.1:n.1278G>T
ENST00000692637.1:c.15889G>T	ENSP00000509666.1:p.Val5297Leu
ENST00000301067.12:c.15892G>T MANE Select	ENSP00000301067.7:p.Val5298Leu
ENST00000301067.11:c.15892G>T	ENSP00000301067.7:p.Val5298Leu
NM_003482.3:c.15892G>T	NP_003473.3:p.Val5298Leu
XM_005269162.3:c.15892G>T	XP_005269219.1:p.Val5298Leu
XM_006719614.2:c.15901G>T	XP_006719677.1:p.Val5301Leu
XM_006719616.2:c.15889G>T	XP_006719679.1:p.Val5297Leu
XM_011538770.1:c.15901G>T	XP_011537072.1:p.Val5301Leu
XM_011538771.1:c.15898G>T	XP_011537073.1:p.Val5300Leu
XM_011538772.1:c.15892G>T	XP_011537074.1:p.Val5298Leu
XM_011538773.1:c.15889G>T	XP_011537075.1:p.Val5297Leu
XM_011538774.1:c.15880G>T	XP_011537076.1:p.Val5294Leu
XM_011538775.1:c.15835G>T	XP_011537077.1:p.Val5279Leu
XM_011538776.1:c.15808G>T	XP_011537078.1:p.Val5270Leu
XR_944740.1:n.17080G>T
XM_005269162.4:c.15892G>T	XP_005269219.1:p.Val5298Leu
XM_006719614.4:c.15901G>T	XP_006719677.1:p.Val5301Leu
XM_006719616.3:c.15889G>T	XP_006719679.1:p.Val5297Leu
XM_011538770.2:c.15901G>T	XP_011537072.1:p.Val5301Leu
XM_011538771.2:c.15898G>T	XP_011537073.1:p.Val5300Leu
XM_011538772.2:c.15892G>T	XP_011537074.1:p.Val5298Leu
XM_011538773.2:c.15889G>T	XP_011537075.1:p.Val5297Leu
XM_011538774.2:c.15880G>T	XP_011537076.1:p.Val5294Leu
XM_011538776.2:c.15808G>T	XP_011537078.1:p.Val5270Leu
XR_001748874.1:n.16069G>T
NM_003482.4:c.15892G>T MANE Select	NP_003473.3:p.Val5298Leu