Canonical Allele Identifier: CA384682002
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024686T>A , CM000674.2:g.49024686T>A GRCh38
NC_000012.11:g.49418469T>A , CM000674.1:g.49418469T>A GRCh37
NC_000012.10:g.47704736T>A NCBI36
NG_027827.1:g.35639A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.616A>T
ENST00000683543.2:c.15944A>T ENSP00000506726.1:p.Gln5315Leu
ENST00000683863.1:n.1659A>T
ENST00000684428.1:c.479A>T ENSP00000507433.1:p.Gln160Leu
ENST00000684755.1:n.479A>T
ENST00000685024.1:c.1098A>T
ENST00000685166.1:c.15953A>T ENSP00000509386.1:p.Gln5318Leu
ENST00000688411.1:c.421A>T ENSP00000510146.1:n.421A>T
ENST00000691932.1:c.23A>T ENSP00000509037.1:p.Gln8Leu
ENST00000692637.1:c.15941A>T ENSP00000509666.1:p.Gln5314Leu
ENST00000301067.12:c.15944A>T MANE Select ENSP00000301067.7:p.Gln5315Leu
ENST00000301067.11:c.15944A>T ENSP00000301067.7:p.Gln5315Leu
NM_003482.3:c.15944A>T NP_003473.3:p.Gln5315Leu
XM_005269162.3:c.15944A>T XP_005269219.1:p.Gln5315Leu
XM_006719614.2:c.15953A>T XP_006719677.1:p.Gln5318Leu
XM_006719616.2:c.15941A>T XP_006719679.1:p.Gln5314Leu
XM_011538770.1:c.15953A>T XP_011537072.1:p.Gln5318Leu
XM_011538771.1:c.15950A>T XP_011537073.1:p.Gln5317Leu
XM_011538772.1:c.15944A>T XP_011537074.1:p.Gln5315Leu
XM_011538773.1:c.15941A>T XP_011537075.1:p.Gln5314Leu
XM_011538774.1:c.15932A>T XP_011537076.1:p.Gln5311Leu
XM_011538775.1:c.15887A>T XP_011537077.1:p.Gln5296Leu
XM_011538776.1:c.15860A>T XP_011537078.1:p.Gln5287Leu
XM_005269162.4:c.15944A>T XP_005269219.1:p.Gln5315Leu
XM_006719614.4:c.15953A>T XP_006719677.1:p.Gln5318Leu
XM_006719616.3:c.15941A>T XP_006719679.1:p.Gln5314Leu
XM_011538770.2:c.15953A>T XP_011537072.1:p.Gln5318Leu
XM_011538771.2:c.15950A>T XP_011537073.1:p.Gln5317Leu
XM_011538772.2:c.15944A>T XP_011537074.1:p.Gln5315Leu
XM_011538773.2:c.15941A>T XP_011537075.1:p.Gln5314Leu
XM_011538774.2:c.15932A>T XP_011537076.1:p.Gln5311Leu
XM_011538776.2:c.15860A>T XP_011537078.1:p.Gln5287Leu
XR_001748874.1:n.16121A>T
NM_003482.4:c.15944A>T MANE Select NP_003473.3:p.Gln5315Leu