Canonical Allele Identifier: CA384740909

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49038576G>C , CM000674.2:g.49038576G>C	GRCh38
NC_000012.11:g.49432359G>C , CM000674.1:g.49432359G>C	GRCh37
NC_000012.10:g.47718626G>C	NCBI36
NG_027827.1:g.21749C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.8780C>G MANE Select	NP_003473.3:p.Ser2927Ter
ENST00000301067.12:c.8780C>G MANE Select	ENSP00000301067.7:p.Ser2927Ter
NM_003482.3:c.8780C>G	NP_003473.3:p.Ser2927Ter
ENST00000301067.11:c.8780C>G	ENSP00000301067.7:p.Ser2927Ter
ENST00000549799.1:n.422C>G
ENST00000683043.1:n.479C>G
ENST00000683543.2:c.8780C>G	ENSP00000506726.1:p.Ser2927Ter
ENST00000685166.1:c.8789C>G	ENSP00000509386.1:p.Ser2930Ter
ENST00000687201.1:c.344C>G	ENSP00000510037.1:p.Ser115Ter
ENST00000689143.1:c.2383C>G	ENSP00000509839.1:n.2383C>G
ENST00000692637.1:c.8777C>G	ENSP00000509666.1:p.Ser2926Ter
ENST00000692841.1:c.344C>G	ENSP00000508711.1:p.Ser115Ter
XM_005269162.3:c.8780C>G	XP_005269219.1:p.Ser2927Ter
XM_005269162.4:c.8780C>G	XP_005269219.1:p.Ser2927Ter
XM_006719614.2:c.8789C>G	XP_006719677.1:p.Ser2930Ter
XM_006719614.4:c.8789C>G	XP_006719677.1:p.Ser2930Ter
XM_006719616.2:c.8777C>G	XP_006719679.1:p.Ser2926Ter
XM_006719616.3:c.8777C>G	XP_006719679.1:p.Ser2926Ter
XM_011538770.1:c.8789C>G	XP_011537072.1:p.Ser2930Ter
XM_011538770.2:c.8789C>G	XP_011537072.1:p.Ser2930Ter
XM_011538771.1:c.8786C>G	XP_011537073.1:p.Ser2929Ter
XM_011538771.2:c.8786C>G	XP_011537073.1:p.Ser2929Ter
XM_011538772.1:c.8780C>G	XP_011537074.1:p.Ser2927Ter
XM_011538772.2:c.8780C>G	XP_011537074.1:p.Ser2927Ter
XM_011538773.1:c.8777C>G	XP_011537075.1:p.Ser2926Ter
XM_011538773.2:c.8777C>G	XP_011537075.1:p.Ser2926Ter
XM_011538774.1:c.8768C>G	XP_011537076.1:p.Ser2923Ter
XM_011538774.2:c.8768C>G	XP_011537076.1:p.Ser2923Ter
XM_011538775.1:c.8789C>G	XP_011537077.1:p.Ser2930Ter
XM_011538776.1:c.8696C>G	XP_011537078.1:p.Ser2899Ter
XM_011538776.2:c.8696C>G	XP_011537078.1:p.Ser2899Ter
XR_001748874.1:n.10098C>G
XR_944740.1:n.11109C>G