Canonical Allele Identifier: CA6547304

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49041487G>A , CM000674.2:g.49041487G>A	GRCh38
NC_000012.11:g.49435270G>A , CM000674.1:g.49435270G>A	GRCh37
NC_000012.10:g.47721537G>A	NCBI36
NG_027827.1:g.18838C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.6283C>T MANE Select	NP_003473.3:p.Arg2095Cys
ENST00000301067.12:c.6283C>T MANE Select	ENSP00000301067.7:p.Arg2095Cys
NM_003482.3:c.6283C>T	NP_003473.3:p.Arg2095Cys
ENST00000301067.11:c.6283C>T	ENSP00000301067.7:p.Arg2095Cys
ENST00000683543.2:c.6283C>T	ENSP00000506726.1:p.Arg2095Cys
ENST00000685166.1:c.6292C>T	ENSP00000509386.1:p.Arg2098Cys
ENST00000689060.1:c.347-45C>T
ENST00000689944.1:c.392C>T
ENST00000692637.1:c.6280C>T	ENSP00000509666.1:p.Arg2094Cys
XM_005269162.3:c.6283C>T	XP_005269219.1:p.Arg2095Cys
XM_005269162.4:c.6283C>T	XP_005269219.1:p.Arg2095Cys
XM_006719614.2:c.6292C>T	XP_006719677.1:p.Arg2098Cys
XM_006719614.4:c.6292C>T	XP_006719677.1:p.Arg2098Cys
XM_006719616.2:c.6280C>T	XP_006719679.1:p.Arg2094Cys
XM_006719616.3:c.6280C>T	XP_006719679.1:p.Arg2094Cys
XM_011538770.1:c.6292C>T	XP_011537072.1:p.Arg2098Cys
XM_011538770.2:c.6292C>T	XP_011537072.1:p.Arg2098Cys
XM_011538771.1:c.6289C>T	XP_011537073.1:p.Arg2097Cys
XM_011538771.2:c.6289C>T	XP_011537073.1:p.Arg2097Cys
XM_011538772.1:c.6283C>T	XP_011537074.1:p.Arg2095Cys
XM_011538772.2:c.6283C>T	XP_011537074.1:p.Arg2095Cys
XM_011538773.1:c.6280C>T	XP_011537075.1:p.Arg2094Cys
XM_011538773.2:c.6280C>T	XP_011537075.1:p.Arg2094Cys
XM_011538774.1:c.6271C>T	XP_011537076.1:p.Arg2091Cys
XM_011538774.2:c.6271C>T	XP_011537076.1:p.Arg2091Cys
XM_011538775.1:c.6292C>T	XP_011537077.1:p.Arg2098Cys
XM_011538776.1:c.6244-45C>T	XP_011537078.1:n.6244-45C>T
XM_011538776.2:c.6244-45C>T	XP_011537078.1:n.6244-45C>T
XR_001748874.1:n.7601C>T
XR_944740.1:n.8612C>T