Canonical Allele Identifier: CA384677479

Gene: KMT2D

Linked Data

• COSMIC: COSM5781879 ; COSM5781880
• MyVariant Identifiers: chr12:g.49416396G>C (hg19) ; chr12:g.49022613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022613G>C , CM000674.2:g.49022613G>C	GRCh38
NC_000012.11:g.49416396G>C , CM000674.1:g.49416396G>C	GRCh37
NC_000012.10:g.47702663G>C	NCBI36
NG_027827.1:g.37712C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.285C>G
ENST00000681974.1:n.987C>G
ENST00000682693.1:n.1949C>G
ENST00000682886.1:n.485C>G
ENST00000683543.2:c.16363C>G	ENSP00000506726.1:p.Arg5455Gly
ENST00000683988.1:c.286C>G	ENSP00000506939.1:p.Arg96Gly
ENST00000684428.1:c.850C>G	ENSP00000507433.1:p.Arg284Gly
ENST00000684755.1:n.898C>G
ENST00000685024.1:c.1469C>G
ENST00000685166.1:c.16324C>G	ENSP00000509386.1:p.Arg5442Gly
ENST00000688411.1:c.792C>G	ENSP00000510146.1:n.792C>G
ENST00000691932.1:c.316C>G	ENSP00000509037.1:p.Arg106Gly
ENST00000692637.1:c.16312C>G	ENSP00000509666.1:p.Arg5438Gly
ENST00000301067.12:c.16315C>G MANE Select	ENSP00000301067.7:p.Arg5439Gly
ENST00000301067.11:c.16315C>G	ENSP00000301067.7:p.Arg5439Gly
ENST00000526209.1:c.358C>G	ENSP00000435714.1:p.Arg120Gly
NM_003482.3:c.16315C>G	NP_003473.3:p.Arg5439Gly
XM_005269162.3:c.16315C>G	XP_005269219.1:p.Arg5439Gly
XM_006719614.2:c.16324C>G	XP_006719677.1:p.Arg5442Gly
XM_006719616.2:c.16312C>G	XP_006719679.1:p.Arg5438Gly
XM_011538770.1:c.16372C>G	XP_011537072.1:p.Arg5458Gly
XM_011538771.1:c.16369C>G	XP_011537073.1:p.Arg5457Gly
XM_011538772.1:c.16363C>G	XP_011537074.1:p.Arg5455Gly
XM_011538773.1:c.16360C>G	XP_011537075.1:p.Arg5454Gly
XM_011538774.1:c.16351C>G	XP_011537076.1:p.Arg5451Gly
XM_011538775.1:c.16306C>G	XP_011537077.1:p.Arg5436Gly
XM_011538776.1:c.16279C>G	XP_011537078.1:p.Arg5427Gly
XM_005269162.4:c.16315C>G	XP_005269219.1:p.Arg5439Gly
XM_006719614.4:c.16324C>G	XP_006719677.1:p.Arg5442Gly
XM_006719616.3:c.16312C>G	XP_006719679.1:p.Arg5438Gly
XM_011538770.2:c.16372C>G	XP_011537072.1:p.Arg5458Gly
XM_011538771.2:c.16369C>G	XP_011537073.1:p.Arg5457Gly
XM_011538772.2:c.16363C>G	XP_011537074.1:p.Arg5455Gly
XM_011538773.2:c.16360C>G	XP_011537075.1:p.Arg5454Gly
XM_011538774.2:c.16351C>G	XP_011537076.1:p.Arg5451Gly
XM_011538776.2:c.16279C>G	XP_011537078.1:p.Arg5427Gly
XR_001748874.1:n.16492C>G
NM_003482.4:c.16315C>G MANE Select	NP_003473.3:p.Arg5439Gly