Canonical Allele Identifier: CA479520850

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415846G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022063G>T , CM000674.2:g.49022063G>T	GRCh38
NC_000012.11:g.49415846G>T , CM000674.1:g.49415846G>T	GRCh37
NC_000012.10:g.47702113G>T	NCBI36
NG_027827.1:g.38262C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.471C>A
ENST00000681974.1:n.1173C>A
ENST00000682693.1:n.2135C>A
ENST00000682886.1:n.907C>A
ENST00000683543.2:c.16549C>A	ENSP00000506726.1:p.Arg5517=
ENST00000683988.1:c.472C>A	ENSP00000506939.1:p.Arg158=
ENST00000684428.1:c.1094C>A	ENSP00000507433.1:n.1094C>A
ENST00000685024.1:c.1655C>A
ENST00000685166.1:c.16510C>A	ENSP00000509386.1:p.Arg5504=
ENST00000691932.1:c.502C>A	ENSP00000509037.1:p.Arg168=
ENST00000692637.1:c.16498C>A	ENSP00000509666.1:p.Arg5500=
ENST00000301067.12:c.16501C>A MANE Select	ENSP00000301067.7:p.Arg5501=
ENST00000301067.11:c.16501C>A	ENSP00000301067.7:p.Arg5501=
ENST00000526209.1:c.544C>A	ENSP00000435714.1:p.Arg182=
NM_003482.3:c.16501C>A	NP_003473.3:p.Arg5501=
XM_005269162.3:c.16501C>A	XP_005269219.1:p.Arg5501=
XM_006719614.2:c.16510C>A	XP_006719677.1:p.Arg5504=
XM_006719616.2:c.16498C>A	XP_006719679.1:p.Arg5500=
XM_011538770.1:c.16558C>A	XP_011537072.1:p.Arg5520=
XM_011538771.1:c.16555C>A	XP_011537073.1:p.Arg5519=
XM_011538772.1:c.16549C>A	XP_011537074.1:p.Arg5517=
XM_011538773.1:c.16546C>A	XP_011537075.1:p.Arg5516=
XM_011538774.1:c.16537C>A	XP_011537076.1:p.Arg5513=
XM_011538775.1:c.16492C>A	XP_011537077.1:p.Arg5498=
XM_011538776.1:c.16465C>A	XP_011537078.1:p.Arg5489=
XM_005269162.4:c.16501C>A	XP_005269219.1:p.Arg5501=
XM_006719614.4:c.16510C>A	XP_006719677.1:p.Arg5504=
XM_006719616.3:c.16498C>A	XP_006719679.1:p.Arg5500=
XM_011538770.2:c.16558C>A	XP_011537072.1:p.Arg5520=
XM_011538771.2:c.16555C>A	XP_011537073.1:p.Arg5519=
XM_011538772.2:c.16549C>A	XP_011537074.1:p.Arg5517=
XM_011538773.2:c.16546C>A	XP_011537075.1:p.Arg5516=
XM_011538774.2:c.16537C>A	XP_011537076.1:p.Arg5513=
XM_011538776.2:c.16465C>A	XP_011537078.1:p.Arg5489=
XR_001748874.1:n.16678C>A
NM_003482.4:c.16501C>A MANE Select	NP_003473.3:p.Arg5501=