Canonical Allele Identifier: CA384682914

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711680
• MyVariant Identifiers: chr12:g.49418648T>C (hg19) ; chr12:g.49024865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024865T>C , CM000674.2:g.49024865T>C	GRCh38
NC_000012.11:g.49418648T>C , CM000674.1:g.49418648T>C	GRCh37
NC_000012.10:g.47704915T>C	NCBI36
NG_027827.1:g.35460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.538A>G
ENST00000683543.2:c.15866A>G	ENSP00000506726.1:p.Lys5289Arg
ENST00000683863.1:n.1581A>G
ENST00000684428.1:c.401A>G	ENSP00000507433.1:p.Lys134Arg
ENST00000684755.1:n.401A>G
ENST00000685024.1:c.991A>G
ENST00000685166.1:c.15875A>G	ENSP00000509386.1:p.Lys5292Arg
ENST00000688411.1:c.343A>G	ENSP00000510146.1:n.343A>G
ENST00000691463.1:c.1252A>G	ENSP00000510624.1:n.1252A>G
ENST00000692637.1:c.15863A>G	ENSP00000509666.1:p.Lys5288Arg
ENST00000301067.12:c.15866A>G MANE Select	ENSP00000301067.7:p.Lys5289Arg
ENST00000301067.11:c.15866A>G	ENSP00000301067.7:p.Lys5289Arg
NM_003482.3:c.15866A>G	NP_003473.3:p.Lys5289Arg
XM_005269162.3:c.15866A>G	XP_005269219.1:p.Lys5289Arg
XM_006719614.2:c.15875A>G	XP_006719677.1:p.Lys5292Arg
XM_006719616.2:c.15863A>G	XP_006719679.1:p.Lys5288Arg
XM_011538770.1:c.15875A>G	XP_011537072.1:p.Lys5292Arg
XM_011538771.1:c.15872A>G	XP_011537073.1:p.Lys5291Arg
XM_011538772.1:c.15866A>G	XP_011537074.1:p.Lys5289Arg
XM_011538773.1:c.15863A>G	XP_011537075.1:p.Lys5288Arg
XM_011538774.1:c.15854A>G	XP_011537076.1:p.Lys5285Arg
XM_011538775.1:c.15809A>G	XP_011537077.1:p.Lys5270Arg
XM_011538776.1:c.15782A>G	XP_011537078.1:p.Lys5261Arg
XR_944740.1:n.17054A>G
XM_005269162.4:c.15866A>G	XP_005269219.1:p.Lys5289Arg
XM_006719614.4:c.15875A>G	XP_006719677.1:p.Lys5292Arg
XM_006719616.3:c.15863A>G	XP_006719679.1:p.Lys5288Arg
XM_011538770.2:c.15875A>G	XP_011537072.1:p.Lys5292Arg
XM_011538771.2:c.15872A>G	XP_011537073.1:p.Lys5291Arg
XM_011538772.2:c.15866A>G	XP_011537074.1:p.Lys5289Arg
XM_011538773.2:c.15863A>G	XP_011537075.1:p.Lys5288Arg
XM_011538774.2:c.15854A>G	XP_011537076.1:p.Lys5285Arg
XM_011538776.2:c.15782A>G	XP_011537078.1:p.Lys5261Arg
XR_001748874.1:n.16043A>G
NM_003482.4:c.15866A>G MANE Select	NP_003473.3:p.Lys5289Arg