Canonical Allele Identifier: CA147697

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 94233
• ClinVar RCV Id: RCV000080196 ; RCV000276335
• dbSNP Id: rs77794669
• ExAC: 12:49436005 C / T
• gnomAD v2: 12-49436005-C-T
• gnomAD v3: 12-49042222-C-T
• gnomAD v4: 12-49042222-C-T
• MyVariant Identifiers: chr12:g.49436005C>T (hg19) ; chr12:g.49042222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042222C>T , CM000674.2:g.49042222C>T	GRCh38
NC_000012.11:g.49436005C>T , CM000674.1:g.49436005C>T	GRCh37
NC_000012.10:g.47722272C>T	NCBI36
NG_027827.1:g.18103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.767G>A
ENST00000683543.2:c.5976G>A	ENSP00000506726.1:p.Glu1992=
ENST00000685166.1:c.5985G>A	ENSP00000509386.1:p.Glu1995=
ENST00000689060.1:c.88G>A
ENST00000689944.1:c.88G>A
ENST00000692637.1:c.5973G>A	ENSP00000509666.1:p.Glu1991=
ENST00000301067.12:c.5976G>A MANE Select	ENSP00000301067.7:p.Glu1992=
ENST00000301067.11:c.5976G>A	ENSP00000301067.7:p.Glu1992=
NM_003482.3:c.5976G>A	NP_003473.3:p.Glu1992=
XM_005269162.3:c.5976G>A	XP_005269219.1:p.Glu1992=
XM_006719614.2:c.5985G>A	XP_006719677.1:p.Glu1995=
XM_006719616.2:c.5973G>A	XP_006719679.1:p.Glu1991=
XM_011538770.1:c.5985G>A	XP_011537072.1:p.Glu1995=
XM_011538771.1:c.5982G>A	XP_011537073.1:p.Glu1994=
XM_011538772.1:c.5976G>A	XP_011537074.1:p.Glu1992=
XM_011538773.1:c.5973G>A	XP_011537075.1:p.Glu1991=
XM_011538774.1:c.5964G>A	XP_011537076.1:p.Glu1988=
XM_011538775.1:c.5985G>A	XP_011537077.1:p.Glu1995=
XM_011538776.1:c.5985G>A	XP_011537078.1:p.Glu1995=
XR_944740.1:n.8305G>A
XM_005269162.4:c.5976G>A	XP_005269219.1:p.Glu1992=
XM_006719614.4:c.5985G>A	XP_006719677.1:p.Glu1995=
XM_006719616.3:c.5973G>A	XP_006719679.1:p.Glu1991=
XM_011538770.2:c.5985G>A	XP_011537072.1:p.Glu1995=
XM_011538771.2:c.5982G>A	XP_011537073.1:p.Glu1994=
XM_011538772.2:c.5976G>A	XP_011537074.1:p.Glu1992=
XM_011538773.2:c.5973G>A	XP_011537075.1:p.Glu1991=
XM_011538774.2:c.5964G>A	XP_011537076.1:p.Glu1988=
XM_011538776.2:c.5985G>A	XP_011537078.1:p.Glu1995=
XR_001748874.1:n.7294G>A
NM_003482.4:c.5976G>A MANE Select	NP_003473.3:p.Glu1992=