Canonical Allele Identifier: CA384742738

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433051G>C (hg19) ; chr12:g.49039268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039268G>C , CM000674.2:g.49039268G>C	GRCh38
NC_000012.11:g.49433051G>C , CM000674.1:g.49433051G>C	GRCh37
NC_000012.10:g.47719318G>C	NCBI36
NG_027827.1:g.21057C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.19C>G
ENST00000683543.2:c.8320C>G	ENSP00000506726.1:p.Arg2774Gly
ENST00000685166.1:c.8329C>G	ENSP00000509386.1:p.Arg2777Gly
ENST00000689060.1:c.2339C>G
ENST00000689143.1:c.1993C>G	ENSP00000509839.1:p.Arg665Gly
ENST00000689944.1:c.2429C>G
ENST00000692637.1:c.8317C>G	ENSP00000509666.1:p.Arg2773Gly
ENST00000301067.12:c.8320C>G MANE Select	ENSP00000301067.7:p.Arg2774Gly
ENST00000301067.11:c.8320C>G	ENSP00000301067.7:p.Arg2774Gly
ENST00000549799.1:n.32C>G
NM_003482.3:c.8320C>G	NP_003473.3:p.Arg2774Gly
XM_005269162.3:c.8320C>G	XP_005269219.1:p.Arg2774Gly
XM_006719614.2:c.8329C>G	XP_006719677.1:p.Arg2777Gly
XM_006719616.2:c.8317C>G	XP_006719679.1:p.Arg2773Gly
XM_011538770.1:c.8329C>G	XP_011537072.1:p.Arg2777Gly
XM_011538771.1:c.8326C>G	XP_011537073.1:p.Arg2776Gly
XM_011538772.1:c.8320C>G	XP_011537074.1:p.Arg2774Gly
XM_011538773.1:c.8317C>G	XP_011537075.1:p.Arg2773Gly
XM_011538774.1:c.8308C>G	XP_011537076.1:p.Arg2770Gly
XM_011538775.1:c.8329C>G	XP_011537077.1:p.Arg2777Gly
XM_011538776.1:c.8236C>G	XP_011537078.1:p.Arg2746Gly
XR_944740.1:n.10649C>G
XM_005269162.4:c.8320C>G	XP_005269219.1:p.Arg2774Gly
XM_006719614.4:c.8329C>G	XP_006719677.1:p.Arg2777Gly
XM_006719616.3:c.8317C>G	XP_006719679.1:p.Arg2773Gly
XM_011538770.2:c.8329C>G	XP_011537072.1:p.Arg2777Gly
XM_011538771.2:c.8326C>G	XP_011537073.1:p.Arg2776Gly
XM_011538772.2:c.8320C>G	XP_011537074.1:p.Arg2774Gly
XM_011538773.2:c.8317C>G	XP_011537075.1:p.Arg2773Gly
XM_011538774.2:c.8308C>G	XP_011537076.1:p.Arg2770Gly
XM_011538776.2:c.8236C>G	XP_011537078.1:p.Arg2746Gly
XR_001748874.1:n.9638C>G
NM_003482.4:c.8320C>G MANE Select	NP_003473.3:p.Arg2774Gly