Canonical Allele Identifier: CA384743031

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039325T>A , CM000674.2:g.49039325T>A	GRCh38
NC_000012.11:g.49433108T>A , CM000674.1:g.49433108T>A	GRCh37
NC_000012.10:g.47719375T>A	NCBI36
NG_027827.1:g.21000A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.8263A>T MANE Select	NP_003473.3:p.Lys2755Ter
ENST00000301067.12:c.8263A>T MANE Select	ENSP00000301067.7:p.Lys2755Ter
NM_003482.3:c.8263A>T	NP_003473.3:p.Lys2755Ter
ENST00000301067.11:c.8263A>T	ENSP00000301067.7:p.Lys2755Ter
ENST00000683543.2:c.8263A>T	ENSP00000506726.1:p.Lys2755Ter
ENST00000685166.1:c.8272A>T	ENSP00000509386.1:p.Lys2758Ter
ENST00000689060.1:c.2282A>T
ENST00000689143.1:c.1936A>T	ENSP00000509839.1:p.Lys646Ter
ENST00000689944.1:c.2372A>T
ENST00000692637.1:c.8260A>T	ENSP00000509666.1:p.Lys2754Ter
XM_005269162.3:c.8263A>T	XP_005269219.1:p.Lys2755Ter
XM_005269162.4:c.8263A>T	XP_005269219.1:p.Lys2755Ter
XM_006719614.2:c.8272A>T	XP_006719677.1:p.Lys2758Ter
XM_006719614.4:c.8272A>T	XP_006719677.1:p.Lys2758Ter
XM_006719616.2:c.8260A>T	XP_006719679.1:p.Lys2754Ter
XM_006719616.3:c.8260A>T	XP_006719679.1:p.Lys2754Ter
XM_011538770.1:c.8272A>T	XP_011537072.1:p.Lys2758Ter
XM_011538770.2:c.8272A>T	XP_011537072.1:p.Lys2758Ter
XM_011538771.1:c.8269A>T	XP_011537073.1:p.Lys2757Ter
XM_011538771.2:c.8269A>T	XP_011537073.1:p.Lys2757Ter
XM_011538772.1:c.8263A>T	XP_011537074.1:p.Lys2755Ter
XM_011538772.2:c.8263A>T	XP_011537074.1:p.Lys2755Ter
XM_011538773.1:c.8260A>T	XP_011537075.1:p.Lys2754Ter
XM_011538773.2:c.8260A>T	XP_011537075.1:p.Lys2754Ter
XM_011538774.1:c.8251A>T	XP_011537076.1:p.Lys2751Ter
XM_011538774.2:c.8251A>T	XP_011537076.1:p.Lys2751Ter
XM_011538775.1:c.8272A>T	XP_011537077.1:p.Lys2758Ter
XM_011538776.1:c.8179A>T	XP_011537078.1:p.Lys2727Ter
XM_011538776.2:c.8179A>T	XP_011537078.1:p.Lys2727Ter
XR_001748874.1:n.9581A>T
XR_944740.1:n.10592A>T