Canonical Allele Identifier: CA236648061

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040442C>A , CM000674.2:g.49040442C>A	GRCh38
NC_000012.11:g.49434225C>A , CM000674.1:g.49434225C>A	GRCh37
NC_000012.10:g.47720492C>A	NCBI36
NG_027827.1:g.19883G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7328G>T MANE Select	NP_003473.3:p.Arg2443Leu
ENST00000301067.12:c.7328G>T MANE Select	ENSP00000301067.7:p.Arg2443Leu
NM_003482.3:c.7328G>T	NP_003473.3:p.Arg2443Leu
ENST00000301067.11:c.7328G>T	ENSP00000301067.7:p.Arg2443Leu
ENST00000683543.2:c.7328G>T	ENSP00000506726.1:p.Arg2443Leu
ENST00000685166.1:c.7337G>T	ENSP00000509386.1:p.Arg2446Leu
ENST00000689060.1:c.1347G>T
ENST00000689143.1:c.1001G>T	ENSP00000509839.1:p.Arg334Leu
ENST00000689944.1:c.1437G>T
ENST00000692637.1:c.7325G>T	ENSP00000509666.1:p.Arg2442Leu
XM_005269162.3:c.7328G>T	XP_005269219.1:p.Arg2443Leu
XM_005269162.4:c.7328G>T	XP_005269219.1:p.Arg2443Leu
XM_006719614.2:c.7337G>T	XP_006719677.1:p.Arg2446Leu
XM_006719614.4:c.7337G>T	XP_006719677.1:p.Arg2446Leu
XM_006719616.2:c.7325G>T	XP_006719679.1:p.Arg2442Leu
XM_006719616.3:c.7325G>T	XP_006719679.1:p.Arg2442Leu
XM_011538770.1:c.7337G>T	XP_011537072.1:p.Arg2446Leu
XM_011538770.2:c.7337G>T	XP_011537072.1:p.Arg2446Leu
XM_011538771.1:c.7334G>T	XP_011537073.1:p.Arg2445Leu
XM_011538771.2:c.7334G>T	XP_011537073.1:p.Arg2445Leu
XM_011538772.1:c.7328G>T	XP_011537074.1:p.Arg2443Leu
XM_011538772.2:c.7328G>T	XP_011537074.1:p.Arg2443Leu
XM_011538773.1:c.7325G>T	XP_011537075.1:p.Arg2442Leu
XM_011538773.2:c.7325G>T	XP_011537075.1:p.Arg2442Leu
XM_011538774.1:c.7316G>T	XP_011537076.1:p.Arg2439Leu
XM_011538774.2:c.7316G>T	XP_011537076.1:p.Arg2439Leu
XM_011538775.1:c.7337G>T	XP_011537077.1:p.Arg2446Leu
XM_011538776.1:c.7244G>T	XP_011537078.1:p.Arg2415Leu
XM_011538776.2:c.7244G>T	XP_011537078.1:p.Arg2415Leu
XR_001748874.1:n.8646G>T
XR_944740.1:n.9657G>T