Canonical Allele Identifier: CA6547002

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040046G>A , CM000674.2:g.49040046G>A	GRCh38
NC_000012.11:g.49433829G>A , CM000674.1:g.49433829G>A	GRCh37
NC_000012.10:g.47720096G>A	NCBI36
NG_027827.1:g.20279C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7724C>T MANE Select	NP_003473.3:p.Pro2575Leu
ENST00000301067.12:c.7724C>T MANE Select	ENSP00000301067.7:p.Pro2575Leu
NM_003482.3:c.7724C>T	NP_003473.3:p.Pro2575Leu
ENST00000301067.11:c.7724C>T	ENSP00000301067.7:p.Pro2575Leu
ENST00000683543.2:c.7724C>T	ENSP00000506726.1:p.Pro2575Leu
ENST00000685166.1:c.7733C>T	ENSP00000509386.1:p.Pro2578Leu
ENST00000689060.1:c.1743C>T
ENST00000689143.1:c.1397C>T	ENSP00000509839.1:p.Pro466Leu
ENST00000689944.1:c.1833C>T
ENST00000692637.1:c.7721C>T	ENSP00000509666.1:p.Pro2574Leu
XM_005269162.3:c.7724C>T	XP_005269219.1:p.Pro2575Leu
XM_005269162.4:c.7724C>T	XP_005269219.1:p.Pro2575Leu
XM_006719614.2:c.7733C>T	XP_006719677.1:p.Pro2578Leu
XM_006719614.4:c.7733C>T	XP_006719677.1:p.Pro2578Leu
XM_006719616.2:c.7721C>T	XP_006719679.1:p.Pro2574Leu
XM_006719616.3:c.7721C>T	XP_006719679.1:p.Pro2574Leu
XM_011538770.1:c.7733C>T	XP_011537072.1:p.Pro2578Leu
XM_011538770.2:c.7733C>T	XP_011537072.1:p.Pro2578Leu
XM_011538771.1:c.7730C>T	XP_011537073.1:p.Pro2577Leu
XM_011538771.2:c.7730C>T	XP_011537073.1:p.Pro2577Leu
XM_011538772.1:c.7724C>T	XP_011537074.1:p.Pro2575Leu
XM_011538772.2:c.7724C>T	XP_011537074.1:p.Pro2575Leu
XM_011538773.1:c.7721C>T	XP_011537075.1:p.Pro2574Leu
XM_011538773.2:c.7721C>T	XP_011537075.1:p.Pro2574Leu
XM_011538774.1:c.7712C>T	XP_011537076.1:p.Pro2571Leu
XM_011538774.2:c.7712C>T	XP_011537076.1:p.Pro2571Leu
XM_011538775.1:c.7733C>T	XP_011537077.1:p.Pro2578Leu
XM_011538776.1:c.7640C>T	XP_011537078.1:p.Pro2547Leu
XM_011538776.2:c.7640C>T	XP_011537078.1:p.Pro2547Leu
XR_001748874.1:n.9042C>T
XR_944740.1:n.10053C>T