Canonical Allele Identifier: CA384627323
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs1943571195

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49042235G>A , CM000674.2:g.49042235G>A GRCh38
NC_000012.11:g.49436018G>A , CM000674.1:g.49436018G>A GRCh37
NC_000012.10:g.47722285G>A NCBI36
NG_027827.1:g.18090C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650290.2:c.754C>T
ENST00000683543.2:c.5963C>T ENSP00000506726.1:p.Thr1988Ile
ENST00000685166.1:c.5972C>T ENSP00000509386.1:p.Thr1991Ile
ENST00000689060.1:c.75C>T
ENST00000689944.1:c.75C>T
ENST00000692637.1:c.5960C>T ENSP00000509666.1:p.Thr1987Ile
ENST00000301067.12:c.5963C>T MANE Select ENSP00000301067.7:p.Thr1988Ile
ENST00000301067.11:c.5963C>T ENSP00000301067.7:p.Thr1988Ile
NM_003482.3:c.5963C>T NP_003473.3:p.Thr1988Ile
XM_005269162.3:c.5963C>T XP_005269219.1:p.Thr1988Ile
XM_006719614.2:c.5972C>T XP_006719677.1:p.Thr1991Ile
XM_006719616.2:c.5960C>T XP_006719679.1:p.Thr1987Ile
XM_011538770.1:c.5972C>T XP_011537072.1:p.Thr1991Ile
XM_011538771.1:c.5969C>T XP_011537073.1:p.Thr1990Ile
XM_011538772.1:c.5963C>T XP_011537074.1:p.Thr1988Ile
XM_011538773.1:c.5960C>T XP_011537075.1:p.Thr1987Ile
XM_011538774.1:c.5951C>T XP_011537076.1:p.Thr1984Ile
XM_011538775.1:c.5972C>T XP_011537077.1:p.Thr1991Ile
XM_011538776.1:c.5972C>T XP_011537078.1:p.Thr1991Ile
XR_944740.1:n.8292C>T
XM_005269162.4:c.5963C>T XP_005269219.1:p.Thr1988Ile
XM_006719614.4:c.5972C>T XP_006719677.1:p.Thr1991Ile
XM_006719616.3:c.5960C>T XP_006719679.1:p.Thr1987Ile
XM_011538770.2:c.5972C>T XP_011537072.1:p.Thr1991Ile
XM_011538771.2:c.5969C>T XP_011537073.1:p.Thr1990Ile
XM_011538772.2:c.5963C>T XP_011537074.1:p.Thr1988Ile
XM_011538773.2:c.5960C>T XP_011537075.1:p.Thr1987Ile
XM_011538774.2:c.5951C>T XP_011537076.1:p.Thr1984Ile
XM_011538776.2:c.5972C>T XP_011537078.1:p.Thr1991Ile
XR_001748874.1:n.7281C>T
NM_003482.4:c.5963C>T MANE Select NP_003473.3:p.Thr1988Ile