Canonical Allele Identifier: CA6546866
Community Standard Title: NM_003482.4(KMT2D):c.8321G>T (p.Arg2774Leu)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49039267C>A , CM000674.2:g.49039267C>A GRCh38
NC_000012.11:g.49433050C>A , CM000674.1:g.49433050C>A GRCh37
NC_000012.10:g.47719317C>A NCBI36
NG_027827.1:g.21058G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.8321G>T MANE Select NP_003473.3:p.Arg2774Leu
ENST00000301067.12:c.8321G>T MANE Select ENSP00000301067.7:p.Arg2774Leu
NM_003482.3:c.8321G>T NP_003473.3:p.Arg2774Leu
ENST00000301067.11:c.8321G>T ENSP00000301067.7:p.Arg2774Leu
ENST00000549799.1:n.33G>T
ENST00000683043.1:n.20G>T
ENST00000683543.2:c.8321G>T ENSP00000506726.1:p.Arg2774Leu
ENST00000685166.1:c.8330G>T ENSP00000509386.1:p.Arg2777Leu
ENST00000689060.1:c.2340G>T
ENST00000689143.1:c.1994G>T ENSP00000509839.1:p.Arg665Leu
ENST00000689944.1:c.2430G>T
ENST00000692637.1:c.8318G>T ENSP00000509666.1:p.Arg2773Leu
XM_005269162.3:c.8321G>T XP_005269219.1:p.Arg2774Leu
XM_005269162.4:c.8321G>T XP_005269219.1:p.Arg2774Leu
XM_006719614.2:c.8330G>T XP_006719677.1:p.Arg2777Leu
XM_006719614.4:c.8330G>T XP_006719677.1:p.Arg2777Leu
XM_006719616.2:c.8318G>T XP_006719679.1:p.Arg2773Leu
XM_006719616.3:c.8318G>T XP_006719679.1:p.Arg2773Leu
XM_011538770.1:c.8330G>T XP_011537072.1:p.Arg2777Leu
XM_011538770.2:c.8330G>T XP_011537072.1:p.Arg2777Leu
XM_011538771.1:c.8327G>T XP_011537073.1:p.Arg2776Leu
XM_011538771.2:c.8327G>T XP_011537073.1:p.Arg2776Leu
XM_011538772.1:c.8321G>T XP_011537074.1:p.Arg2774Leu
XM_011538772.2:c.8321G>T XP_011537074.1:p.Arg2774Leu
XM_011538773.1:c.8318G>T XP_011537075.1:p.Arg2773Leu
XM_011538773.2:c.8318G>T XP_011537075.1:p.Arg2773Leu
XM_011538774.1:c.8309G>T XP_011537076.1:p.Arg2770Leu
XM_011538774.2:c.8309G>T XP_011537076.1:p.Arg2770Leu
XM_011538775.1:c.8330G>T XP_011537077.1:p.Arg2777Leu
XM_011538776.1:c.8237G>T XP_011537078.1:p.Arg2746Leu
XM_011538776.2:c.8237G>T XP_011537078.1:p.Arg2746Leu
XR_001748874.1:n.9639G>T
XR_944740.1:n.10650G>T