Canonical Allele Identifier: CA384681512

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 982431
• ClinVar RCV Id: RCV001262013
• dbSNP Id: rs1942485576
• MyVariant Identifiers: chr12:g.49418424G>C (hg19) ; chr12:g.49024641G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024641G>C , CM000674.2:g.49024641G>C	GRCh38
NC_000012.11:g.49418424G>C , CM000674.1:g.49418424G>C	GRCh37
NC_000012.10:g.47704691G>C	NCBI36
NG_027827.1:g.35684C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.661C>G
ENST00000683543.2:c.15989C>G	ENSP00000506726.1:p.Pro5330Arg
ENST00000683863.1:n.1704C>G
ENST00000684428.1:c.524C>G	ENSP00000507433.1:p.Pro175Arg
ENST00000684755.1:n.524C>G
ENST00000685024.1:c.1143C>G
ENST00000685166.1:c.15998C>G	ENSP00000509386.1:p.Pro5333Arg
ENST00000688411.1:c.466C>G	ENSP00000510146.1:n.466C>G
ENST00000691932.1:c.68C>G	ENSP00000509037.1:p.Pro23Arg
ENST00000692637.1:c.15986C>G	ENSP00000509666.1:p.Pro5329Arg
ENST00000301067.12:c.15989C>G MANE Select	ENSP00000301067.7:p.Pro5330Arg
ENST00000301067.11:c.15989C>G	ENSP00000301067.7:p.Pro5330Arg
NM_003482.3:c.15989C>G	NP_003473.3:p.Pro5330Arg
XM_005269162.3:c.15989C>G	XP_005269219.1:p.Pro5330Arg
XM_006719614.2:c.15998C>G	XP_006719677.1:p.Pro5333Arg
XM_006719616.2:c.15986C>G	XP_006719679.1:p.Pro5329Arg
XM_011538770.1:c.15998C>G	XP_011537072.1:p.Pro5333Arg
XM_011538771.1:c.15995C>G	XP_011537073.1:p.Pro5332Arg
XM_011538772.1:c.15989C>G	XP_011537074.1:p.Pro5330Arg
XM_011538773.1:c.15986C>G	XP_011537075.1:p.Pro5329Arg
XM_011538774.1:c.15977C>G	XP_011537076.1:p.Pro5326Arg
XM_011538775.1:c.15932C>G	XP_011537077.1:p.Pro5311Arg
XM_011538776.1:c.15905C>G	XP_011537078.1:p.Pro5302Arg
XM_005269162.4:c.15989C>G	XP_005269219.1:p.Pro5330Arg
XM_006719614.4:c.15998C>G	XP_006719677.1:p.Pro5333Arg
XM_006719616.3:c.15986C>G	XP_006719679.1:p.Pro5329Arg
XM_011538770.2:c.15998C>G	XP_011537072.1:p.Pro5333Arg
XM_011538771.2:c.15995C>G	XP_011537073.1:p.Pro5332Arg
XM_011538772.2:c.15989C>G	XP_011537074.1:p.Pro5330Arg
XM_011538773.2:c.15986C>G	XP_011537075.1:p.Pro5329Arg
XM_011538774.2:c.15977C>G	XP_011537076.1:p.Pro5326Arg
XM_011538776.2:c.15905C>G	XP_011537078.1:p.Pro5302Arg
XR_001748874.1:n.16166C>G
NM_003482.4:c.15989C>G MANE Select	NP_003473.3:p.Pro5330Arg