Canonical Allele Identifier: CA384676954

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137705030
• gnomAD v4: 12-49022320-C-A
• MyVariant Identifiers: chr12:g.49416103C>A (hg19) ; chr12:g.49022320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022320C>A , CM000674.2:g.49022320C>A	GRCh38
NC_000012.11:g.49416103C>A , CM000674.1:g.49416103C>A	GRCh37
NC_000012.10:g.47702370C>A	NCBI36
NG_027827.1:g.38005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.342G>T
ENST00000681974.1:n.1044G>T
ENST00000682693.1:n.2006G>T
ENST00000682886.1:n.778G>T
ENST00000683543.2:c.16420G>T	ENSP00000506726.1:p.Glu5474Ter
ENST00000683988.1:c.343G>T	ENSP00000506939.1:p.Glu115Ter
ENST00000684428.1:c.965G>T	ENSP00000507433.1:p.Ter322Leu
ENST00000685024.1:c.1526G>T
ENST00000685166.1:c.16381G>T	ENSP00000509386.1:p.Glu5461Ter
ENST00000691932.1:c.373G>T	ENSP00000509037.1:p.Glu125Ter
ENST00000692637.1:c.16369G>T	ENSP00000509666.1:p.Glu5457Ter
ENST00000301067.12:c.16372G>T MANE Select	ENSP00000301067.7:p.Glu5458Ter
ENST00000301067.11:c.16372G>T	ENSP00000301067.7:p.Glu5458Ter
ENST00000526209.1:c.415G>T	ENSP00000435714.1:p.Glu139Ter
NM_003482.3:c.16372G>T	NP_003473.3:p.Glu5458Ter
XM_005269162.3:c.16372G>T	XP_005269219.1:p.Glu5458Ter
XM_006719614.2:c.16381G>T	XP_006719677.1:p.Glu5461Ter
XM_006719616.2:c.16369G>T	XP_006719679.1:p.Glu5457Ter
XM_011538770.1:c.16429G>T	XP_011537072.1:p.Glu5477Ter
XM_011538771.1:c.16426G>T	XP_011537073.1:p.Glu5476Ter
XM_011538772.1:c.16420G>T	XP_011537074.1:p.Glu5474Ter
XM_011538773.1:c.16417G>T	XP_011537075.1:p.Glu5473Ter
XM_011538774.1:c.16408G>T	XP_011537076.1:p.Glu5470Ter
XM_011538775.1:c.16363G>T	XP_011537077.1:p.Glu5455Ter
XM_011538776.1:c.16336G>T	XP_011537078.1:p.Glu5446Ter
XM_005269162.4:c.16372G>T	XP_005269219.1:p.Glu5458Ter
XM_006719614.4:c.16381G>T	XP_006719677.1:p.Glu5461Ter
XM_006719616.3:c.16369G>T	XP_006719679.1:p.Glu5457Ter
XM_011538770.2:c.16429G>T	XP_011537072.1:p.Glu5477Ter
XM_011538771.2:c.16426G>T	XP_011537073.1:p.Glu5476Ter
XM_011538772.2:c.16420G>T	XP_011537074.1:p.Glu5474Ter
XM_011538773.2:c.16417G>T	XP_011537075.1:p.Glu5473Ter
XM_011538774.2:c.16408G>T	XP_011537076.1:p.Glu5470Ter
XM_011538776.2:c.16336G>T	XP_011537078.1:p.Glu5446Ter
XR_001748874.1:n.16549G>T
NM_003482.4:c.16372G>T MANE Select	NP_003473.3:p.Glu5458Ter