Canonical Allele Identifier: CA384675942

Gene: KMT2D

Linked Data

• dbSNP Id: rs1477916093
• gnomAD v2: 12-49415876-C-G
• gnomAD v4: 12-49022093-C-G
• MyVariant Identifiers: chr12:g.49415876C>G (hg19) ; chr12:g.49022093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022093C>G , CM000674.2:g.49022093C>G	GRCh38
NC_000012.11:g.49415876C>G , CM000674.1:g.49415876C>G	GRCh37
NC_000012.10:g.47702143C>G	NCBI36
NG_027827.1:g.38232G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.441G>C
ENST00000681974.1:n.1143G>C
ENST00000682693.1:n.2105G>C
ENST00000682886.1:n.877G>C
ENST00000683543.2:c.16519G>C	ENSP00000506726.1:p.Glu5507Gln
ENST00000683988.1:c.442G>C	ENSP00000506939.1:p.Glu148Gln
ENST00000684428.1:c.1064G>C	ENSP00000507433.1:n.1064G>C
ENST00000685024.1:c.1625G>C
ENST00000685166.1:c.16480G>C	ENSP00000509386.1:p.Glu5494Gln
ENST00000691932.1:c.472G>C	ENSP00000509037.1:p.Glu158Gln
ENST00000692637.1:c.16468G>C	ENSP00000509666.1:p.Glu5490Gln
ENST00000301067.12:c.16471G>C MANE Select	ENSP00000301067.7:p.Glu5491Gln
ENST00000301067.11:c.16471G>C	ENSP00000301067.7:p.Glu5491Gln
ENST00000526209.1:c.514G>C	ENSP00000435714.1:p.Glu172Gln
NM_003482.3:c.16471G>C	NP_003473.3:p.Glu5491Gln
XM_005269162.3:c.16471G>C	XP_005269219.1:p.Glu5491Gln
XM_006719614.2:c.16480G>C	XP_006719677.1:p.Glu5494Gln
XM_006719616.2:c.16468G>C	XP_006719679.1:p.Glu5490Gln
XM_011538770.1:c.16528G>C	XP_011537072.1:p.Glu5510Gln
XM_011538771.1:c.16525G>C	XP_011537073.1:p.Glu5509Gln
XM_011538772.1:c.16519G>C	XP_011537074.1:p.Glu5507Gln
XM_011538773.1:c.16516G>C	XP_011537075.1:p.Glu5506Gln
XM_011538774.1:c.16507G>C	XP_011537076.1:p.Glu5503Gln
XM_011538775.1:c.16462G>C	XP_011537077.1:p.Glu5488Gln
XM_011538776.1:c.16435G>C	XP_011537078.1:p.Glu5479Gln
XM_005269162.4:c.16471G>C	XP_005269219.1:p.Glu5491Gln
XM_006719614.4:c.16480G>C	XP_006719677.1:p.Glu5494Gln
XM_006719616.3:c.16468G>C	XP_006719679.1:p.Glu5490Gln
XM_011538770.2:c.16528G>C	XP_011537072.1:p.Glu5510Gln
XM_011538771.2:c.16525G>C	XP_011537073.1:p.Glu5509Gln
XM_011538772.2:c.16519G>C	XP_011537074.1:p.Glu5507Gln
XM_011538773.2:c.16516G>C	XP_011537075.1:p.Glu5506Gln
XM_011538774.2:c.16507G>C	XP_011537076.1:p.Glu5503Gln
XM_011538776.2:c.16435G>C	XP_011537078.1:p.Glu5479Gln
XR_001748874.1:n.16648G>C
NM_003482.4:c.16471G>C MANE Select	NP_003473.3:p.Glu5491Gln