Canonical Allele Identifier: CA384682901

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711667
• MyVariant Identifiers: chr12:g.49418646C>A (hg19) ; chr12:g.49024863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024863C>A , CM000674.2:g.49024863C>A	GRCh38
NC_000012.11:g.49418646C>A , CM000674.1:g.49418646C>A	GRCh37
NC_000012.10:g.47704913C>A	NCBI36
NG_027827.1:g.35462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.540G>T
ENST00000683543.2:c.15868G>T	ENSP00000506726.1:p.Gly5290Cys
ENST00000683863.1:n.1583G>T
ENST00000684428.1:c.403G>T	ENSP00000507433.1:p.Gly135Cys
ENST00000684755.1:n.403G>T
ENST00000685024.1:c.993G>T
ENST00000685166.1:c.15877G>T	ENSP00000509386.1:p.Gly5293Cys
ENST00000688411.1:c.345G>T	ENSP00000510146.1:n.345G>T
ENST00000691463.1:c.1254G>T	ENSP00000510624.1:n.1254G>T
ENST00000692637.1:c.15865G>T	ENSP00000509666.1:p.Gly5289Cys
ENST00000301067.12:c.15868G>T MANE Select	ENSP00000301067.7:p.Gly5290Cys
ENST00000301067.11:c.15868G>T	ENSP00000301067.7:p.Gly5290Cys
NM_003482.3:c.15868G>T	NP_003473.3:p.Gly5290Cys
XM_005269162.3:c.15868G>T	XP_005269219.1:p.Gly5290Cys
XM_006719614.2:c.15877G>T	XP_006719677.1:p.Gly5293Cys
XM_006719616.2:c.15865G>T	XP_006719679.1:p.Gly5289Cys
XM_011538770.1:c.15877G>T	XP_011537072.1:p.Gly5293Cys
XM_011538771.1:c.15874G>T	XP_011537073.1:p.Gly5292Cys
XM_011538772.1:c.15868G>T	XP_011537074.1:p.Gly5290Cys
XM_011538773.1:c.15865G>T	XP_011537075.1:p.Gly5289Cys
XM_011538774.1:c.15856G>T	XP_011537076.1:p.Gly5286Cys
XM_011538775.1:c.15811G>T	XP_011537077.1:p.Gly5271Cys
XM_011538776.1:c.15784G>T	XP_011537078.1:p.Gly5262Cys
XR_944740.1:n.17056G>T
XM_005269162.4:c.15868G>T	XP_005269219.1:p.Gly5290Cys
XM_006719614.4:c.15877G>T	XP_006719677.1:p.Gly5293Cys
XM_006719616.3:c.15865G>T	XP_006719679.1:p.Gly5289Cys
XM_011538770.2:c.15877G>T	XP_011537072.1:p.Gly5293Cys
XM_011538771.2:c.15874G>T	XP_011537073.1:p.Gly5292Cys
XM_011538772.2:c.15868G>T	XP_011537074.1:p.Gly5290Cys
XM_011538773.2:c.15865G>T	XP_011537075.1:p.Gly5289Cys
XM_011538774.2:c.15856G>T	XP_011537076.1:p.Gly5286Cys
XM_011538776.2:c.15784G>T	XP_011537078.1:p.Gly5262Cys
XR_001748874.1:n.16045G>T
NM_003482.4:c.15868G>T MANE Select	NP_003473.3:p.Gly5290Cys