Canonical Allele Identifier: CA384703500

Gene: KMT2D

Linked Data

• dbSNP Id: rs1188592187
• gnomAD v3: 12-49030972-C-T
• gnomAD v4: 12-49030972-C-T
• MyVariant Identifiers: chr12:g.49424755C>T (hg19) ; chr12:g.49030972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030972C>T , CM000674.2:g.49030972C>T	GRCh38
NC_000012.11:g.49424755C>T , CM000674.1:g.49424755C>T	GRCh37
NC_000012.10:g.47711022C>T	NCBI36
NG_027827.1:g.29353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.292G>A
ENST00000683543.2:c.13592G>A	ENSP00000506726.1:p.Arg4531Lys
ENST00000685166.1:c.13601G>A	ENSP00000509386.1:p.Arg4534Lys
ENST00000685982.1:c.139-204G>A	ENSP00000508613.1:n.139-204G>A
ENST00000691986.1:c.138+203G>A	ENSP00000509196.1:n.138+203G>A
ENST00000692637.1:c.13589G>A	ENSP00000509666.1:p.Arg4530Lys
ENST00000692973.1:c.193G>A	ENSP00000508893.1:n.193G>A
ENST00000301067.12:c.13592G>A MANE Select	ENSP00000301067.7:p.Arg4531Lys
ENST00000301067.11:c.13592G>A	ENSP00000301067.7:p.Arg4531Lys
ENST00000552391.1:n.292G>A
NM_003482.3:c.13592G>A	NP_003473.3:p.Arg4531Lys
XM_005269162.3:c.13592G>A	XP_005269219.1:p.Arg4531Lys
XM_006719614.2:c.13601G>A	XP_006719677.1:p.Arg4534Lys
XM_006719616.2:c.13589G>A	XP_006719679.1:p.Arg4530Lys
XM_011538770.1:c.13601G>A	XP_011537072.1:p.Arg4534Lys
XM_011538771.1:c.13598G>A	XP_011537073.1:p.Arg4533Lys
XM_011538772.1:c.13592G>A	XP_011537074.1:p.Arg4531Lys
XM_011538773.1:c.13589G>A	XP_011537075.1:p.Arg4530Lys
XM_011538774.1:c.13580G>A	XP_011537076.1:p.Arg4527Lys
XM_011538775.1:c.13601G>A	XP_011537077.1:p.Arg4534Lys
XM_011538776.1:c.13508G>A	XP_011537078.1:p.Arg4503Lys
XR_944740.1:n.15921G>A
XM_005269162.4:c.13592G>A	XP_005269219.1:p.Arg4531Lys
XM_006719614.4:c.13601G>A	XP_006719677.1:p.Arg4534Lys
XM_006719616.3:c.13589G>A	XP_006719679.1:p.Arg4530Lys
XM_011538770.2:c.13601G>A	XP_011537072.1:p.Arg4534Lys
XM_011538771.2:c.13598G>A	XP_011537073.1:p.Arg4533Lys
XM_011538772.2:c.13592G>A	XP_011537074.1:p.Arg4531Lys
XM_011538773.2:c.13589G>A	XP_011537075.1:p.Arg4530Lys
XM_011538774.2:c.13580G>A	XP_011537076.1:p.Arg4527Lys
XM_011538776.2:c.13508G>A	XP_011537078.1:p.Arg4503Lys
XR_001748874.1:n.14910G>A
NM_003482.4:c.13592G>A MANE Select	NP_003473.3:p.Arg4531Lys