Canonical Allele Identifier: CA479522047
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs2137711587
MyVariant Identifiers: chr12:g.49418635G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024852G>A , CM000674.2:g.49024852G>A GRCh38
NC_000012.11:g.49418635G>A , CM000674.1:g.49418635G>A GRCh37
NC_000012.10:g.47704902G>A NCBI36
NG_027827.1:g.35473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.551C>T
ENST00000683543.2:c.15879C>T ENSP00000506726.1:p.Leu5293=
ENST00000683863.1:n.1594C>T
ENST00000684428.1:c.414C>T ENSP00000507433.1:p.Leu138=
ENST00000684755.1:n.414C>T
ENST00000685024.1:c.1004C>T
ENST00000685166.1:c.15888C>T ENSP00000509386.1:p.Leu5296=
ENST00000688411.1:c.356C>T ENSP00000510146.1:n.356C>T
ENST00000691463.1:c.1265C>T ENSP00000510624.1:n.1265C>T
ENST00000692637.1:c.15876C>T ENSP00000509666.1:p.Leu5292=
ENST00000301067.12:c.15879C>T MANE Select ENSP00000301067.7:p.Leu5293=
ENST00000301067.11:c.15879C>T ENSP00000301067.7:p.Leu5293=
NM_003482.3:c.15879C>T NP_003473.3:p.Leu5293=
XM_005269162.3:c.15879C>T XP_005269219.1:p.Leu5293=
XM_006719614.2:c.15888C>T XP_006719677.1:p.Leu5296=
XM_006719616.2:c.15876C>T XP_006719679.1:p.Leu5292=
XM_011538770.1:c.15888C>T XP_011537072.1:p.Leu5296=
XM_011538771.1:c.15885C>T XP_011537073.1:p.Leu5295=
XM_011538772.1:c.15879C>T XP_011537074.1:p.Leu5293=
XM_011538773.1:c.15876C>T XP_011537075.1:p.Leu5292=
XM_011538774.1:c.15867C>T XP_011537076.1:p.Leu5289=
XM_011538775.1:c.15822C>T XP_011537077.1:p.Leu5274=
XM_011538776.1:c.15795C>T XP_011537078.1:p.Leu5265=
XR_944740.1:n.17067C>T
XM_005269162.4:c.15879C>T XP_005269219.1:p.Leu5293=
XM_006719614.4:c.15888C>T XP_006719677.1:p.Leu5296=
XM_006719616.3:c.15876C>T XP_006719679.1:p.Leu5292=
XM_011538770.2:c.15888C>T XP_011537072.1:p.Leu5296=
XM_011538771.2:c.15885C>T XP_011537073.1:p.Leu5295=
XM_011538772.2:c.15879C>T XP_011537074.1:p.Leu5293=
XM_011538773.2:c.15876C>T XP_011537075.1:p.Leu5292=
XM_011538774.2:c.15867C>T XP_011537076.1:p.Leu5289=
XM_011538776.2:c.15795C>T XP_011537078.1:p.Leu5265=
XR_001748874.1:n.16056C>T
NM_003482.4:c.15879C>T MANE Select NP_003473.3:p.Leu5293=