Canonical Allele Identifier: CA384627134

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49435981C>A (hg19) ; chr12:g.49042198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042198C>A , CM000674.2:g.49042198C>A	GRCh38
NC_000012.11:g.49435981C>A , CM000674.1:g.49435981C>A	GRCh37
NC_000012.10:g.47722248C>A	NCBI36
NG_027827.1:g.18127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.791G>T
ENST00000683543.2:c.6000G>T	ENSP00000506726.1:p.Gln2000His
ENST00000685166.1:c.6009G>T	ENSP00000509386.1:p.Gln2003His
ENST00000689060.1:c.112G>T
ENST00000689944.1:c.112G>T
ENST00000692637.1:c.5997G>T	ENSP00000509666.1:p.Gln1999His
ENST00000301067.12:c.6000G>T MANE Select	ENSP00000301067.7:p.Gln2000His
ENST00000301067.11:c.6000G>T	ENSP00000301067.7:p.Gln2000His
NM_003482.3:c.6000G>T	NP_003473.3:p.Gln2000His
XM_005269162.3:c.6000G>T	XP_005269219.1:p.Gln2000His
XM_006719614.2:c.6009G>T	XP_006719677.1:p.Gln2003His
XM_006719616.2:c.5997G>T	XP_006719679.1:p.Gln1999His
XM_011538770.1:c.6009G>T	XP_011537072.1:p.Gln2003His
XM_011538771.1:c.6006G>T	XP_011537073.1:p.Gln2002His
XM_011538772.1:c.6000G>T	XP_011537074.1:p.Gln2000His
XM_011538773.1:c.5997G>T	XP_011537075.1:p.Gln1999His
XM_011538774.1:c.5988G>T	XP_011537076.1:p.Gln1996His
XM_011538775.1:c.6009G>T	XP_011537077.1:p.Gln2003His
XM_011538776.1:c.6009G>T	XP_011537078.1:p.Gln2003His
XR_944740.1:n.8329G>T
XM_005269162.4:c.6000G>T	XP_005269219.1:p.Gln2000His
XM_006719614.4:c.6009G>T	XP_006719677.1:p.Gln2003His
XM_006719616.3:c.5997G>T	XP_006719679.1:p.Gln1999His
XM_011538770.2:c.6009G>T	XP_011537072.1:p.Gln2003His
XM_011538771.2:c.6006G>T	XP_011537073.1:p.Gln2002His
XM_011538772.2:c.6000G>T	XP_011537074.1:p.Gln2000His
XM_011538773.2:c.5997G>T	XP_011537075.1:p.Gln1999His
XM_011538774.2:c.5988G>T	XP_011537076.1:p.Gln1996His
XM_011538776.2:c.6009G>T	XP_011537078.1:p.Gln2003His
XR_001748874.1:n.7318G>T
NM_003482.4:c.6000G>T MANE Select	NP_003473.3:p.Gln2000His