Canonical Allele Identifier: CA384743391

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49039465-A-C
• MyVariant Identifiers: chr12:g.49433248A>C (hg19) ; chr12:g.49039465A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039465A>C , CM000674.2:g.49039465A>C	GRCh38
NC_000012.11:g.49433248A>C , CM000674.1:g.49433248A>C	GRCh37
NC_000012.10:g.47719515A>C	NCBI36
NG_027827.1:g.20860T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8199T>G	ENSP00000506726.1:p.Ser2733Arg
ENST00000685166.1:c.8208T>G	ENSP00000509386.1:p.Ser2736Arg
ENST00000689060.1:c.2218T>G
ENST00000689143.1:c.1872T>G	ENSP00000509839.1:p.Ser624Arg
ENST00000689944.1:c.2308T>G
ENST00000692637.1:c.8196T>G	ENSP00000509666.1:p.Ser2732Arg
ENST00000301067.12:c.8199T>G MANE Select	ENSP00000301067.7:p.Ser2733Arg
ENST00000301067.11:c.8199T>G	ENSP00000301067.7:p.Ser2733Arg
NM_003482.3:c.8199T>G	NP_003473.3:p.Ser2733Arg
XM_005269162.3:c.8199T>G	XP_005269219.1:p.Ser2733Arg
XM_006719614.2:c.8208T>G	XP_006719677.1:p.Ser2736Arg
XM_006719616.2:c.8196T>G	XP_006719679.1:p.Ser2732Arg
XM_011538770.1:c.8208T>G	XP_011537072.1:p.Ser2736Arg
XM_011538771.1:c.8205T>G	XP_011537073.1:p.Ser2735Arg
XM_011538772.1:c.8199T>G	XP_011537074.1:p.Ser2733Arg
XM_011538773.1:c.8196T>G	XP_011537075.1:p.Ser2732Arg
XM_011538774.1:c.8187T>G	XP_011537076.1:p.Ser2729Arg
XM_011538775.1:c.8208T>G	XP_011537077.1:p.Ser2736Arg
XM_011538776.1:c.8115T>G	XP_011537078.1:p.Ser2705Arg
XR_944740.1:n.10528T>G
XM_005269162.4:c.8199T>G	XP_005269219.1:p.Ser2733Arg
XM_006719614.4:c.8208T>G	XP_006719677.1:p.Ser2736Arg
XM_006719616.3:c.8196T>G	XP_006719679.1:p.Ser2732Arg
XM_011538770.2:c.8208T>G	XP_011537072.1:p.Ser2736Arg
XM_011538771.2:c.8205T>G	XP_011537073.1:p.Ser2735Arg
XM_011538772.2:c.8199T>G	XP_011537074.1:p.Ser2733Arg
XM_011538773.2:c.8196T>G	XP_011537075.1:p.Ser2732Arg
XM_011538774.2:c.8187T>G	XP_011537076.1:p.Ser2729Arg
XM_011538776.2:c.8115T>G	XP_011537078.1:p.Ser2705Arg
XR_001748874.1:n.9517T>G
NM_003482.4:c.8199T>G MANE Select	NP_003473.3:p.Ser2733Arg