Canonical Allele Identifier: CA384675742

Gene: KMT2D

Linked Data

• dbSNP Id: rs886041398
• MyVariant Identifiers: chr12:g.49415846G>C (hg19) ; chr12:g.49022063G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.471C>G
ENST00000681974.1:n.1173C>G
ENST00000682693.1:n.2135C>G
ENST00000682886.1:n.907C>G
ENST00000683543.2:c.16549C>G	ENSP00000506726.1:p.Arg5517Gly
ENST00000683988.1:c.472C>G	ENSP00000506939.1:p.Arg158Gly
ENST00000684428.1:c.1094C>G	ENSP00000507433.1:n.1094C>G
ENST00000685024.1:c.1655C>G
ENST00000685166.1:c.16510C>G	ENSP00000509386.1:p.Arg5504Gly
ENST00000691932.1:c.502C>G	ENSP00000509037.1:p.Arg168Gly
ENST00000692637.1:c.16498C>G	ENSP00000509666.1:p.Arg5500Gly
ENST00000301067.12:c.16501C>G MANE Select	ENSP00000301067.7:p.Arg5501Gly
ENST00000301067.11:c.16501C>G	ENSP00000301067.7:p.Arg5501Gly
ENST00000526209.1:c.544C>G	ENSP00000435714.1:p.Arg182Gly
NM_003482.3:c.16501C>G	NP_003473.3:p.Arg5501Gly
XM_005269162.3:c.16501C>G	XP_005269219.1:p.Arg5501Gly
XM_006719614.2:c.16510C>G	XP_006719677.1:p.Arg5504Gly
XM_006719616.2:c.16498C>G	XP_006719679.1:p.Arg5500Gly
XM_011538770.1:c.16558C>G	XP_011537072.1:p.Arg5520Gly
XM_011538771.1:c.16555C>G	XP_011537073.1:p.Arg5519Gly
XM_011538772.1:c.16549C>G	XP_011537074.1:p.Arg5517Gly
XM_011538773.1:c.16546C>G	XP_011537075.1:p.Arg5516Gly
XM_011538774.1:c.16537C>G	XP_011537076.1:p.Arg5513Gly
XM_011538775.1:c.16492C>G	XP_011537077.1:p.Arg5498Gly
XM_011538776.1:c.16465C>G	XP_011537078.1:p.Arg5489Gly
XM_005269162.4:c.16501C>G	XP_005269219.1:p.Arg5501Gly
XM_006719614.4:c.16510C>G	XP_006719677.1:p.Arg5504Gly
XM_006719616.3:c.16498C>G	XP_006719679.1:p.Arg5500Gly
XM_011538770.2:c.16558C>G	XP_011537072.1:p.Arg5520Gly
XM_011538771.2:c.16555C>G	XP_011537073.1:p.Arg5519Gly
XM_011538772.2:c.16549C>G	XP_011537074.1:p.Arg5517Gly
XM_011538773.2:c.16546C>G	XP_011537075.1:p.Arg5516Gly
XM_011538774.2:c.16537C>G	XP_011537076.1:p.Arg5513Gly
XM_011538776.2:c.16465C>G	XP_011537078.1:p.Arg5489Gly
XR_001748874.1:n.16678C>G
NM_003482.4:c.16501C>G MANE Select	NP_003473.3:p.Arg5501Gly