Canonical Allele Identifier: CA384628071

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2505590
• ClinVar RCV Id: RCV003235822
• dbSNP Id: rs2120557030
• MyVariant Identifiers: chr12:g.49436368C>G (hg19) ; chr12:g.49042585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042585C>G , CM000674.2:g.49042585C>G	GRCh38
NC_000012.11:g.49436368C>G , CM000674.1:g.49436368C>G	GRCh37
NC_000012.10:g.47722635C>G	NCBI36
NG_027827.1:g.17740G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.655G>C
ENST00000683543.2:c.5843G>C	ENSP00000506726.1:p.Cys1948Ser
ENST00000685166.1:c.5852G>C	ENSP00000509386.1:p.Cys1951Ser
ENST00000688095.1:c.1792G>C	ENSP00000510007.1:n.1792G>C
ENST00000692637.1:c.5840G>C	ENSP00000509666.1:p.Cys1947Ser
ENST00000301067.12:c.5843G>C MANE Select	ENSP00000301067.7:p.Cys1948Ser
ENST00000301067.11:c.5843G>C	ENSP00000301067.7:p.Cys1948Ser
NM_003482.3:c.5843G>C	NP_003473.3:p.Cys1948Ser
XM_005269162.3:c.5843G>C	XP_005269219.1:p.Cys1948Ser
XM_006719614.2:c.5852G>C	XP_006719677.1:p.Cys1951Ser
XM_006719616.2:c.5840G>C	XP_006719679.1:p.Cys1947Ser
XM_011538770.1:c.5852G>C	XP_011537072.1:p.Cys1951Ser
XM_011538771.1:c.5849G>C	XP_011537073.1:p.Cys1950Ser
XM_011538772.1:c.5843G>C	XP_011537074.1:p.Cys1948Ser
XM_011538773.1:c.5840G>C	XP_011537075.1:p.Cys1947Ser
XM_011538774.1:c.5852G>C	XP_011537076.1:p.Cys1951Ser
XM_011538775.1:c.5852G>C	XP_011537077.1:p.Cys1951Ser
XM_011538776.1:c.5852G>C	XP_011537078.1:p.Cys1951Ser
XR_944740.1:n.8172G>C
XM_005269162.4:c.5843G>C	XP_005269219.1:p.Cys1948Ser
XM_006719614.4:c.5852G>C	XP_006719677.1:p.Cys1951Ser
XM_006719616.3:c.5840G>C	XP_006719679.1:p.Cys1947Ser
XM_011538770.2:c.5852G>C	XP_011537072.1:p.Cys1951Ser
XM_011538771.2:c.5849G>C	XP_011537073.1:p.Cys1950Ser
XM_011538772.2:c.5843G>C	XP_011537074.1:p.Cys1948Ser
XM_011538773.2:c.5840G>C	XP_011537075.1:p.Cys1947Ser
XM_011538774.2:c.5852G>C	XP_011537076.1:p.Cys1951Ser
XM_011538776.2:c.5852G>C	XP_011537078.1:p.Cys1951Ser
XR_001748874.1:n.7161G>C
NM_003482.4:c.5843G>C MANE Select	NP_003473.3:p.Cys1948Ser