Canonical Allele Identifier: CA384682188

Gene: KMT2D

Linked Data

• dbSNP Id: rs1435849650
• MyVariant Identifiers: chr12:g.49418485C>G (hg19) ; chr12:g.49024702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024702C>G , CM000674.2:g.49024702C>G	GRCh38
NC_000012.11:g.49418485C>G , CM000674.1:g.49418485C>G	GRCh37
NC_000012.10:g.47704752C>G	NCBI36
NG_027827.1:g.35623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.600G>C
ENST00000683543.2:c.15928G>C	ENSP00000506726.1:p.Gly5310Arg
ENST00000683863.1:n.1643G>C
ENST00000684428.1:c.463G>C	ENSP00000507433.1:p.Gly155Arg
ENST00000684755.1:n.463G>C
ENST00000685024.1:c.1082G>C
ENST00000685166.1:c.15937G>C	ENSP00000509386.1:p.Gly5313Arg
ENST00000688411.1:c.405G>C	ENSP00000510146.1:n.405G>C
ENST00000691932.1:c.7G>C	ENSP00000509037.1:p.Gly3Arg
ENST00000692637.1:c.15925G>C	ENSP00000509666.1:p.Gly5309Arg
ENST00000301067.12:c.15928G>C MANE Select	ENSP00000301067.7:p.Gly5310Arg
ENST00000301067.11:c.15928G>C	ENSP00000301067.7:p.Gly5310Arg
NM_003482.3:c.15928G>C	NP_003473.3:p.Gly5310Arg
XM_005269162.3:c.15928G>C	XP_005269219.1:p.Gly5310Arg
XM_006719614.2:c.15937G>C	XP_006719677.1:p.Gly5313Arg
XM_006719616.2:c.15925G>C	XP_006719679.1:p.Gly5309Arg
XM_011538770.1:c.15937G>C	XP_011537072.1:p.Gly5313Arg
XM_011538771.1:c.15934G>C	XP_011537073.1:p.Gly5312Arg
XM_011538772.1:c.15928G>C	XP_011537074.1:p.Gly5310Arg
XM_011538773.1:c.15925G>C	XP_011537075.1:p.Gly5309Arg
XM_011538774.1:c.15916G>C	XP_011537076.1:p.Gly5306Arg
XM_011538775.1:c.15871G>C	XP_011537077.1:p.Gly5291Arg
XM_011538776.1:c.15844G>C	XP_011537078.1:p.Gly5282Arg
XR_944740.1:n.17116G>C
XM_005269162.4:c.15928G>C	XP_005269219.1:p.Gly5310Arg
XM_006719614.4:c.15937G>C	XP_006719677.1:p.Gly5313Arg
XM_006719616.3:c.15925G>C	XP_006719679.1:p.Gly5309Arg
XM_011538770.2:c.15937G>C	XP_011537072.1:p.Gly5313Arg
XM_011538771.2:c.15934G>C	XP_011537073.1:p.Gly5312Arg
XM_011538772.2:c.15928G>C	XP_011537074.1:p.Gly5310Arg
XM_011538773.2:c.15925G>C	XP_011537075.1:p.Gly5309Arg
XM_011538774.2:c.15916G>C	XP_011537076.1:p.Gly5306Arg
XM_011538776.2:c.15844G>C	XP_011537078.1:p.Gly5282Arg
XR_001748874.1:n.16105G>C
NM_003482.4:c.15928G>C MANE Select	NP_003473.3:p.Gly5310Arg