Canonical Allele Identifier: CA384749071

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040749G>A , CM000674.2:g.49040749G>A	GRCh38
NC_000012.11:g.49434532G>A , CM000674.1:g.49434532G>A	GRCh37
NC_000012.10:g.47720799G>A	NCBI36
NG_027827.1:g.19576C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7021C>T MANE Select	NP_003473.3:p.Gln2341Ter
ENST00000301067.12:c.7021C>T MANE Select	ENSP00000301067.7:p.Gln2341Ter
NM_003482.3:c.7021C>T	NP_003473.3:p.Gln2341Ter
ENST00000301067.11:c.7021C>T	ENSP00000301067.7:p.Gln2341Ter
ENST00000683543.2:c.7021C>T	ENSP00000506726.1:p.Gln2341Ter
ENST00000685166.1:c.7030C>T	ENSP00000509386.1:p.Gln2344Ter
ENST00000689060.1:c.1040C>T
ENST00000689143.1:c.694C>T	ENSP00000509839.1:p.Gln232Ter
ENST00000689944.1:c.1130C>T
ENST00000692637.1:c.7018C>T	ENSP00000509666.1:p.Gln2340Ter
XM_005269162.3:c.7021C>T	XP_005269219.1:p.Gln2341Ter
XM_005269162.4:c.7021C>T	XP_005269219.1:p.Gln2341Ter
XM_006719614.2:c.7030C>T	XP_006719677.1:p.Gln2344Ter
XM_006719614.4:c.7030C>T	XP_006719677.1:p.Gln2344Ter
XM_006719616.2:c.7018C>T	XP_006719679.1:p.Gln2340Ter
XM_006719616.3:c.7018C>T	XP_006719679.1:p.Gln2340Ter
XM_011538770.1:c.7030C>T	XP_011537072.1:p.Gln2344Ter
XM_011538770.2:c.7030C>T	XP_011537072.1:p.Gln2344Ter
XM_011538771.1:c.7027C>T	XP_011537073.1:p.Gln2343Ter
XM_011538771.2:c.7027C>T	XP_011537073.1:p.Gln2343Ter
XM_011538772.1:c.7021C>T	XP_011537074.1:p.Gln2341Ter
XM_011538772.2:c.7021C>T	XP_011537074.1:p.Gln2341Ter
XM_011538773.1:c.7018C>T	XP_011537075.1:p.Gln2340Ter
XM_011538773.2:c.7018C>T	XP_011537075.1:p.Gln2340Ter
XM_011538774.1:c.7009C>T	XP_011537076.1:p.Gln2337Ter
XM_011538774.2:c.7009C>T	XP_011537076.1:p.Gln2337Ter
XM_011538775.1:c.7030C>T	XP_011537077.1:p.Gln2344Ter
XM_011538776.1:c.6937C>T	XP_011537078.1:p.Gln2313Ter
XM_011538776.2:c.6937C>T	XP_011537078.1:p.Gln2313Ter
XR_001748874.1:n.8339C>T
XR_944740.1:n.9350C>T