Canonical Allele Identifier: CA384627119

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49435977T>C (hg19) ; chr12:g.49042194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042194T>C , CM000674.2:g.49042194T>C	GRCh38
NC_000012.11:g.49435977T>C , CM000674.1:g.49435977T>C	GRCh37
NC_000012.10:g.47722244T>C	NCBI36
NG_027827.1:g.18131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.795A>G
ENST00000683543.2:c.6004A>G	ENSP00000506726.1:p.Ser2002Gly
ENST00000685166.1:c.6013A>G	ENSP00000509386.1:p.Ser2005Gly
ENST00000689060.1:c.116A>G
ENST00000689944.1:c.116A>G
ENST00000692637.1:c.6001A>G	ENSP00000509666.1:p.Ser2001Gly
ENST00000301067.12:c.6004A>G MANE Select	ENSP00000301067.7:p.Ser2002Gly
ENST00000301067.11:c.6004A>G	ENSP00000301067.7:p.Ser2002Gly
NM_003482.3:c.6004A>G	NP_003473.3:p.Ser2002Gly
XM_005269162.3:c.6004A>G	XP_005269219.1:p.Ser2002Gly
XM_006719614.2:c.6013A>G	XP_006719677.1:p.Ser2005Gly
XM_006719616.2:c.6001A>G	XP_006719679.1:p.Ser2001Gly
XM_011538770.1:c.6013A>G	XP_011537072.1:p.Ser2005Gly
XM_011538771.1:c.6010A>G	XP_011537073.1:p.Ser2004Gly
XM_011538772.1:c.6004A>G	XP_011537074.1:p.Ser2002Gly
XM_011538773.1:c.6001A>G	XP_011537075.1:p.Ser2001Gly
XM_011538774.1:c.5992A>G	XP_011537076.1:p.Ser1998Gly
XM_011538775.1:c.6013A>G	XP_011537077.1:p.Ser2005Gly
XM_011538776.1:c.6013A>G	XP_011537078.1:p.Ser2005Gly
XR_944740.1:n.8333A>G
XM_005269162.4:c.6004A>G	XP_005269219.1:p.Ser2002Gly
XM_006719614.4:c.6013A>G	XP_006719677.1:p.Ser2005Gly
XM_006719616.3:c.6001A>G	XP_006719679.1:p.Ser2001Gly
XM_011538770.2:c.6013A>G	XP_011537072.1:p.Ser2005Gly
XM_011538771.2:c.6010A>G	XP_011537073.1:p.Ser2004Gly
XM_011538772.2:c.6004A>G	XP_011537074.1:p.Ser2002Gly
XM_011538773.2:c.6001A>G	XP_011537075.1:p.Ser2001Gly
XM_011538774.2:c.5992A>G	XP_011537076.1:p.Ser1998Gly
XM_011538776.2:c.6013A>G	XP_011537078.1:p.Ser2005Gly
XR_001748874.1:n.7322A>G
NM_003482.4:c.6004A>G MANE Select	NP_003473.3:p.Ser2002Gly