Canonical Allele Identifier: CA384627568

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042285-G-T
• MyVariant Identifiers: chr12:g.49436068G>T (hg19) ; chr12:g.49042285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042285G>T , CM000674.2:g.49042285G>T	GRCh38
NC_000012.11:g.49436068G>T , CM000674.1:g.49436068G>T	GRCh37
NC_000012.10:g.47722335G>T	NCBI36
NG_027827.1:g.18040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.704C>A
ENST00000683543.2:c.5913C>A	ENSP00000506726.1:p.Ser1971Arg
ENST00000685166.1:c.5922C>A	ENSP00000509386.1:p.Ser1974Arg
ENST00000689060.1:c.25C>A
ENST00000689944.1:c.25C>A
ENST00000692637.1:c.5910C>A	ENSP00000509666.1:p.Ser1970Arg
ENST00000301067.12:c.5913C>A MANE Select	ENSP00000301067.7:p.Ser1971Arg
ENST00000301067.11:c.5913C>A	ENSP00000301067.7:p.Ser1971Arg
NM_003482.3:c.5913C>A	NP_003473.3:p.Ser1971Arg
XM_005269162.3:c.5913C>A	XP_005269219.1:p.Ser1971Arg
XM_006719614.2:c.5922C>A	XP_006719677.1:p.Ser1974Arg
XM_006719616.2:c.5910C>A	XP_006719679.1:p.Ser1970Arg
XM_011538770.1:c.5922C>A	XP_011537072.1:p.Ser1974Arg
XM_011538771.1:c.5919C>A	XP_011537073.1:p.Ser1973Arg
XM_011538772.1:c.5913C>A	XP_011537074.1:p.Ser1971Arg
XM_011538773.1:c.5910C>A	XP_011537075.1:p.Ser1970Arg
XM_011538774.1:c.5901C>A	XP_011537076.1:p.Ser1967Arg
XM_011538775.1:c.5922C>A	XP_011537077.1:p.Ser1974Arg
XM_011538776.1:c.5922C>A	XP_011537078.1:p.Ser1974Arg
XR_944740.1:n.8242C>A
XM_005269162.4:c.5913C>A	XP_005269219.1:p.Ser1971Arg
XM_006719614.4:c.5922C>A	XP_006719677.1:p.Ser1974Arg
XM_006719616.3:c.5910C>A	XP_006719679.1:p.Ser1970Arg
XM_011538770.2:c.5922C>A	XP_011537072.1:p.Ser1974Arg
XM_011538771.2:c.5919C>A	XP_011537073.1:p.Ser1973Arg
XM_011538772.2:c.5913C>A	XP_011537074.1:p.Ser1971Arg
XM_011538773.2:c.5910C>A	XP_011537075.1:p.Ser1970Arg
XM_011538774.2:c.5901C>A	XP_011537076.1:p.Ser1967Arg
XM_011538776.2:c.5922C>A	XP_011537078.1:p.Ser1974Arg
XR_001748874.1:n.7231C>A
NM_003482.4:c.5913C>A MANE Select	NP_003473.3:p.Ser1971Arg