Canonical Allele Identifier: CA236647277

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039803A>G , CM000674.2:g.49039803A>G	GRCh38
NC_000012.11:g.49433586A>G , CM000674.1:g.49433586A>G	GRCh37
NC_000012.10:g.47719853A>G	NCBI36
NG_027827.1:g.20522T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7967T>C MANE Select	NP_003473.3:p.Leu2656Ser
ENST00000301067.12:c.7967T>C MANE Select	ENSP00000301067.7:p.Leu2656Ser
NM_003482.3:c.7967T>C	NP_003473.3:p.Leu2656Ser
ENST00000301067.11:c.7967T>C	ENSP00000301067.7:p.Leu2656Ser
ENST00000683543.2:c.7967T>C	ENSP00000506726.1:p.Leu2656Ser
ENST00000685166.1:c.7976T>C	ENSP00000509386.1:p.Leu2659Ser
ENST00000689060.1:c.1986T>C
ENST00000689143.1:c.1640T>C	ENSP00000509839.1:p.Leu547Ser
ENST00000689944.1:c.2076T>C
ENST00000692637.1:c.7964T>C	ENSP00000509666.1:p.Leu2655Ser
XM_005269162.3:c.7967T>C	XP_005269219.1:p.Leu2656Ser
XM_005269162.4:c.7967T>C	XP_005269219.1:p.Leu2656Ser
XM_006719614.2:c.7976T>C	XP_006719677.1:p.Leu2659Ser
XM_006719614.4:c.7976T>C	XP_006719677.1:p.Leu2659Ser
XM_006719616.2:c.7964T>C	XP_006719679.1:p.Leu2655Ser
XM_006719616.3:c.7964T>C	XP_006719679.1:p.Leu2655Ser
XM_011538770.1:c.7976T>C	XP_011537072.1:p.Leu2659Ser
XM_011538770.2:c.7976T>C	XP_011537072.1:p.Leu2659Ser
XM_011538771.1:c.7973T>C	XP_011537073.1:p.Leu2658Ser
XM_011538771.2:c.7973T>C	XP_011537073.1:p.Leu2658Ser
XM_011538772.1:c.7967T>C	XP_011537074.1:p.Leu2656Ser
XM_011538772.2:c.7967T>C	XP_011537074.1:p.Leu2656Ser
XM_011538773.1:c.7964T>C	XP_011537075.1:p.Leu2655Ser
XM_011538773.2:c.7964T>C	XP_011537075.1:p.Leu2655Ser
XM_011538774.1:c.7955T>C	XP_011537076.1:p.Leu2652Ser
XM_011538774.2:c.7955T>C	XP_011537076.1:p.Leu2652Ser
XM_011538775.1:c.7976T>C	XP_011537077.1:p.Leu2659Ser
XM_011538776.1:c.7883T>C	XP_011537078.1:p.Leu2628Ser
XM_011538776.2:c.7883T>C	XP_011537078.1:p.Leu2628Ser
XR_001748874.1:n.9285T>C
XR_944740.1:n.10296T>C