Canonical Allele Identifier: CA384703602

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1313360
• ClinVar RCV Id: RCV001769311
• dbSNP Id: rs752523300
• gnomAD v2: 12-49424779-T-C
• gnomAD v3: 12-49030996-T-C
• gnomAD v4: 12-49030996-T-C
• MyVariant Identifiers: chr12:g.49424779T>C (hg19) ; chr12:g.49030996T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030996T>C , CM000674.2:g.49030996T>C	GRCh38
NC_000012.11:g.49424779T>C , CM000674.1:g.49424779T>C	GRCh37
NC_000012.10:g.47711046T>C	NCBI36
NG_027827.1:g.29329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.268A>G
ENST00000683543.2:c.13568A>G	ENSP00000506726.1:p.Lys4523Arg
ENST00000685166.1:c.13577A>G	ENSP00000509386.1:p.Lys4526Arg
ENST00000685982.1:c.138+179A>G	ENSP00000508613.1:n.138+179A>G
ENST00000691986.1:c.138+179A>G	ENSP00000509196.1:n.138+179A>G
ENST00000692637.1:c.13565A>G	ENSP00000509666.1:p.Lys4522Arg
ENST00000692973.1:c.169A>G	ENSP00000508893.1:n.169A>G
ENST00000301067.12:c.13568A>G MANE Select	ENSP00000301067.7:p.Lys4523Arg
ENST00000301067.11:c.13568A>G	ENSP00000301067.7:p.Lys4523Arg
ENST00000552391.1:n.268A>G
NM_003482.3:c.13568A>G	NP_003473.3:p.Lys4523Arg
XM_005269162.3:c.13568A>G	XP_005269219.1:p.Lys4523Arg
XM_006719614.2:c.13577A>G	XP_006719677.1:p.Lys4526Arg
XM_006719616.2:c.13565A>G	XP_006719679.1:p.Lys4522Arg
XM_011538770.1:c.13577A>G	XP_011537072.1:p.Lys4526Arg
XM_011538771.1:c.13574A>G	XP_011537073.1:p.Lys4525Arg
XM_011538772.1:c.13568A>G	XP_011537074.1:p.Lys4523Arg
XM_011538773.1:c.13565A>G	XP_011537075.1:p.Lys4522Arg
XM_011538774.1:c.13556A>G	XP_011537076.1:p.Lys4519Arg
XM_011538775.1:c.13577A>G	XP_011537077.1:p.Lys4526Arg
XM_011538776.1:c.13484A>G	XP_011537078.1:p.Lys4495Arg
XR_944740.1:n.15897A>G
XM_005269162.4:c.13568A>G	XP_005269219.1:p.Lys4523Arg
XM_006719614.4:c.13577A>G	XP_006719677.1:p.Lys4526Arg
XM_006719616.3:c.13565A>G	XP_006719679.1:p.Lys4522Arg
XM_011538770.2:c.13577A>G	XP_011537072.1:p.Lys4526Arg
XM_011538771.2:c.13574A>G	XP_011537073.1:p.Lys4525Arg
XM_011538772.2:c.13568A>G	XP_011537074.1:p.Lys4523Arg
XM_011538773.2:c.13565A>G	XP_011537075.1:p.Lys4522Arg
XM_011538774.2:c.13556A>G	XP_011537076.1:p.Lys4519Arg
XM_011538776.2:c.13484A>G	XP_011537078.1:p.Lys4495Arg
XR_001748874.1:n.14886A>G
NM_003482.4:c.13568A>G MANE Select	NP_003473.3:p.Lys4523Arg