Canonical Allele Identifier: CA384731763
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs75937132

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49037164T>A , CM000674.2:g.49037164T>A GRCh38
NC_000012.11:g.49430947T>A , CM000674.1:g.49430947T>A GRCh37
NC_000012.10:g.47717214T>A NCBI36
NG_027827.1:g.23161A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000683043.1:n.1891A>T
ENST00000683543.2:c.10192A>T ENSP00000506726.1:p.Met3398Leu
ENST00000685166.1:c.10201A>T ENSP00000509386.1:p.Met3401Leu
ENST00000687201.1:c.1756A>T ENSP00000510037.1:p.Met586Leu
ENST00000689143.1:c.3795A>T ENSP00000509839.1:n.3795A>T
ENST00000692637.1:c.10189A>T ENSP00000509666.1:p.Met3397Leu
ENST00000692841.1:c.1756A>T ENSP00000508711.1:p.Met586Leu
ENST00000301067.12:c.10192A>T MANE Select ENSP00000301067.7:p.Met3398Leu
ENST00000301067.11:c.10192A>T ENSP00000301067.7:p.Met3398Leu
ENST00000549743.1:n.133A>T
NM_003482.3:c.10192A>T NP_003473.3:p.Met3398Leu
XM_005269162.3:c.10192A>T XP_005269219.1:p.Met3398Leu
XM_006719614.2:c.10201A>T XP_006719677.1:p.Met3401Leu
XM_006719616.2:c.10189A>T XP_006719679.1:p.Met3397Leu
XM_011538770.1:c.10201A>T XP_011537072.1:p.Met3401Leu
XM_011538771.1:c.10198A>T XP_011537073.1:p.Met3400Leu
XM_011538772.1:c.10192A>T XP_011537074.1:p.Met3398Leu
XM_011538773.1:c.10189A>T XP_011537075.1:p.Met3397Leu
XM_011538774.1:c.10180A>T XP_011537076.1:p.Met3394Leu
XM_011538775.1:c.10201A>T XP_011537077.1:p.Met3401Leu
XM_011538776.1:c.10108A>T XP_011537078.1:p.Met3370Leu
XR_944740.1:n.12521A>T
XM_005269162.4:c.10192A>T XP_005269219.1:p.Met3398Leu
XM_006719614.4:c.10201A>T XP_006719677.1:p.Met3401Leu
XM_006719616.3:c.10189A>T XP_006719679.1:p.Met3397Leu
XM_011538770.2:c.10201A>T XP_011537072.1:p.Met3401Leu
XM_011538771.2:c.10198A>T XP_011537073.1:p.Met3400Leu
XM_011538772.2:c.10192A>T XP_011537074.1:p.Met3398Leu
XM_011538773.2:c.10189A>T XP_011537075.1:p.Met3397Leu
XM_011538774.2:c.10180A>T XP_011537076.1:p.Met3394Leu
XM_011538776.2:c.10108A>T XP_011537078.1:p.Met3370Leu
XR_001748874.1:n.11510A>T
NM_003482.4:c.10192A>T MANE Select NP_003473.3:p.Met3398Leu