Canonical Allele Identifier: CA384676135

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415894C>T (hg19) ; chr12:g.49022111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022111C>T , CM000674.2:g.49022111C>T	GRCh38
NC_000012.11:g.49415894C>T , CM000674.1:g.49415894C>T	GRCh37
NC_000012.10:g.47702161C>T	NCBI36
NG_027827.1:g.38214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.423G>A
ENST00000681974.1:n.1125G>A
ENST00000682693.1:n.2087G>A
ENST00000682886.1:n.859G>A
ENST00000683543.2:c.16501G>A	ENSP00000506726.1:p.Val5501Ile
ENST00000683988.1:c.424G>A	ENSP00000506939.1:p.Val142Ile
ENST00000684428.1:c.1046G>A	ENSP00000507433.1:n.1046G>A
ENST00000685024.1:c.1607G>A
ENST00000685166.1:c.16462G>A	ENSP00000509386.1:p.Val5488Ile
ENST00000691932.1:c.454G>A	ENSP00000509037.1:p.Val152Ile
ENST00000692637.1:c.16450G>A	ENSP00000509666.1:p.Val5484Ile
ENST00000301067.12:c.16453G>A MANE Select	ENSP00000301067.7:p.Val5485Ile
ENST00000301067.11:c.16453G>A	ENSP00000301067.7:p.Val5485Ile
ENST00000526209.1:c.496G>A	ENSP00000435714.1:p.Val166Ile
NM_003482.3:c.16453G>A	NP_003473.3:p.Val5485Ile
XM_005269162.3:c.16453G>A	XP_005269219.1:p.Val5485Ile
XM_006719614.2:c.16462G>A	XP_006719677.1:p.Val5488Ile
XM_006719616.2:c.16450G>A	XP_006719679.1:p.Val5484Ile
XM_011538770.1:c.16510G>A	XP_011537072.1:p.Val5504Ile
XM_011538771.1:c.16507G>A	XP_011537073.1:p.Val5503Ile
XM_011538772.1:c.16501G>A	XP_011537074.1:p.Val5501Ile
XM_011538773.1:c.16498G>A	XP_011537075.1:p.Val5500Ile
XM_011538774.1:c.16489G>A	XP_011537076.1:p.Val5497Ile
XM_011538775.1:c.16444G>A	XP_011537077.1:p.Val5482Ile
XM_011538776.1:c.16417G>A	XP_011537078.1:p.Val5473Ile
XM_005269162.4:c.16453G>A	XP_005269219.1:p.Val5485Ile
XM_006719614.4:c.16462G>A	XP_006719677.1:p.Val5488Ile
XM_006719616.3:c.16450G>A	XP_006719679.1:p.Val5484Ile
XM_011538770.2:c.16510G>A	XP_011537072.1:p.Val5504Ile
XM_011538771.2:c.16507G>A	XP_011537073.1:p.Val5503Ile
XM_011538772.2:c.16501G>A	XP_011537074.1:p.Val5501Ile
XM_011538773.2:c.16498G>A	XP_011537075.1:p.Val5500Ile
XM_011538774.2:c.16489G>A	XP_011537076.1:p.Val5497Ile
XM_011538776.2:c.16417G>A	XP_011537078.1:p.Val5473Ile
XR_001748874.1:n.16630G>A
NM_003482.4:c.16453G>A MANE Select	NP_003473.3:p.Val5485Ile