Canonical Allele Identifier: CA236631382

Gene: KMT2D

Linked Data

• dbSNP Id: rs1035602569
• gnomAD v3: 12-49024694-C-T
• gnomAD v4: 12-49024694-C-T
• COSMIC: COSM4529185 ; COSM4529186
• MyVariant Identifiers: chr12:g.49418477C>T (hg19) ; chr12:g.49024694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024694C>T , CM000674.2:g.49024694C>T	GRCh38
NC_000012.11:g.49418477C>T , CM000674.1:g.49418477C>T	GRCh37
NC_000012.10:g.47704744C>T	NCBI36
NG_027827.1:g.35631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.608G>A
ENST00000683543.2:c.15936G>A	ENSP00000506726.1:p.Glu5312=
ENST00000683863.1:n.1651G>A
ENST00000684428.1:c.471G>A	ENSP00000507433.1:p.Glu157=
ENST00000684755.1:n.471G>A
ENST00000685024.1:c.1090G>A
ENST00000685166.1:c.15945G>A	ENSP00000509386.1:p.Glu5315=
ENST00000688411.1:c.413G>A	ENSP00000510146.1:n.413G>A
ENST00000691932.1:c.15G>A	ENSP00000509037.1:p.Glu5=
ENST00000692637.1:c.15933G>A	ENSP00000509666.1:p.Glu5311=
ENST00000301067.12:c.15936G>A MANE Select	ENSP00000301067.7:p.Glu5312=
ENST00000301067.11:c.15936G>A	ENSP00000301067.7:p.Glu5312=
NM_003482.3:c.15936G>A	NP_003473.3:p.Glu5312=
XM_005269162.3:c.15936G>A	XP_005269219.1:p.Glu5312=
XM_006719614.2:c.15945G>A	XP_006719677.1:p.Glu5315=
XM_006719616.2:c.15933G>A	XP_006719679.1:p.Glu5311=
XM_011538770.1:c.15945G>A	XP_011537072.1:p.Glu5315=
XM_011538771.1:c.15942G>A	XP_011537073.1:p.Glu5314=
XM_011538772.1:c.15936G>A	XP_011537074.1:p.Glu5312=
XM_011538773.1:c.15933G>A	XP_011537075.1:p.Glu5311=
XM_011538774.1:c.15924G>A	XP_011537076.1:p.Glu5308=
XM_011538775.1:c.15879G>A	XP_011537077.1:p.Glu5293=
XM_011538776.1:c.15852G>A	XP_011537078.1:p.Glu5284=
XR_944740.1:n.17124G>A
XM_005269162.4:c.15936G>A	XP_005269219.1:p.Glu5312=
XM_006719614.4:c.15945G>A	XP_006719677.1:p.Glu5315=
XM_006719616.3:c.15933G>A	XP_006719679.1:p.Glu5311=
XM_011538770.2:c.15945G>A	XP_011537072.1:p.Glu5315=
XM_011538771.2:c.15942G>A	XP_011537073.1:p.Glu5314=
XM_011538772.2:c.15936G>A	XP_011537074.1:p.Glu5312=
XM_011538773.2:c.15933G>A	XP_011537075.1:p.Glu5311=
XM_011538774.2:c.15924G>A	XP_011537076.1:p.Glu5308=
XM_011538776.2:c.15852G>A	XP_011537078.1:p.Glu5284=
XR_001748874.1:n.16113G>A
NM_003482.4:c.15936G>A MANE Select	NP_003473.3:p.Glu5312=