Canonical Allele Identifier: CA384743021

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433106C>G (hg19) ; chr12:g.49039323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039323C>G , CM000674.2:g.49039323C>G	GRCh38
NC_000012.11:g.49433106C>G , CM000674.1:g.49433106C>G	GRCh37
NC_000012.10:g.47719373C>G	NCBI36
NG_027827.1:g.21002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8265G>C	ENSP00000506726.1:p.Lys2755Asn
ENST00000685166.1:c.8274G>C	ENSP00000509386.1:p.Lys2758Asn
ENST00000689060.1:c.2284G>C
ENST00000689143.1:c.1938G>C	ENSP00000509839.1:p.Lys646Asn
ENST00000689944.1:c.2374G>C
ENST00000692637.1:c.8262G>C	ENSP00000509666.1:p.Lys2754Asn
ENST00000301067.12:c.8265G>C MANE Select	ENSP00000301067.7:p.Lys2755Asn
ENST00000301067.11:c.8265G>C	ENSP00000301067.7:p.Lys2755Asn
NM_003482.3:c.8265G>C	NP_003473.3:p.Lys2755Asn
XM_005269162.3:c.8265G>C	XP_005269219.1:p.Lys2755Asn
XM_006719614.2:c.8274G>C	XP_006719677.1:p.Lys2758Asn
XM_006719616.2:c.8262G>C	XP_006719679.1:p.Lys2754Asn
XM_011538770.1:c.8274G>C	XP_011537072.1:p.Lys2758Asn
XM_011538771.1:c.8271G>C	XP_011537073.1:p.Lys2757Asn
XM_011538772.1:c.8265G>C	XP_011537074.1:p.Lys2755Asn
XM_011538773.1:c.8262G>C	XP_011537075.1:p.Lys2754Asn
XM_011538774.1:c.8253G>C	XP_011537076.1:p.Lys2751Asn
XM_011538775.1:c.8274G>C	XP_011537077.1:p.Lys2758Asn
XM_011538776.1:c.8181G>C	XP_011537078.1:p.Lys2727Asn
XR_944740.1:n.10594G>C
XM_005269162.4:c.8265G>C	XP_005269219.1:p.Lys2755Asn
XM_006719614.4:c.8274G>C	XP_006719677.1:p.Lys2758Asn
XM_006719616.3:c.8262G>C	XP_006719679.1:p.Lys2754Asn
XM_011538770.2:c.8274G>C	XP_011537072.1:p.Lys2758Asn
XM_011538771.2:c.8271G>C	XP_011537073.1:p.Lys2757Asn
XM_011538772.2:c.8265G>C	XP_011537074.1:p.Lys2755Asn
XM_011538773.2:c.8262G>C	XP_011537075.1:p.Lys2754Asn
XM_011538774.2:c.8253G>C	XP_011537076.1:p.Lys2751Asn
XM_011538776.2:c.8181G>C	XP_011537078.1:p.Lys2727Asn
XR_001748874.1:n.9583G>C
NM_003482.4:c.8265G>C MANE Select	NP_003473.3:p.Lys2755Asn