Canonical Allele Identifier: CA2034948428
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49042641T= , CM000674.2:g.49042641T= GRCh38
NC_000012.11:g.49436424T= , CM000674.1:g.49436424T= GRCh37
NC_000012.10:g.47722691T= NCBI36
NG_027827.1:g.17684A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650290.2:c.599A=
ENST00000683543.2:c.5787A= ENSP00000506726.1:p.Gly1929=
ENST00000685166.1:c.5796A= ENSP00000509386.1:p.Gly1932=
ENST00000688095.1:c.1736A= ENSP00000510007.1:n.1736A=
ENST00000692637.1:c.5784A= ENSP00000509666.1:p.Gly1928=
ENST00000301067.12:c.5787A= MANE Select ENSP00000301067.7:p.Gly1929=
ENST00000301067.11:c.5787A= ENSP00000301067.7:p.Gly1929=
NM_003482.3:c.5787A= NP_003473.3:p.Gly1929=
XM_005269162.3:c.5787A= XP_005269219.1:p.Gly1929=
XM_006719614.2:c.5796A= XP_006719677.1:p.Gly1932=
XM_006719616.2:c.5784A= XP_006719679.1:p.Gly1928=
XM_011538770.1:c.5796A= XP_011537072.1:p.Gly1932=
XM_011538771.1:c.5793A= XP_011537073.1:p.Gly1931=
XM_011538772.1:c.5787A= XP_011537074.1:p.Gly1929=
XM_011538773.1:c.5784A= XP_011537075.1:p.Gly1928=
XM_011538774.1:c.5796A= XP_011537076.1:p.Gly1932=
XM_011538775.1:c.5796A= XP_011537077.1:p.Gly1932=
XM_011538776.1:c.5796A= XP_011537078.1:p.Gly1932=
XR_944740.1:n.8116A=
XM_005269162.4:c.5787A= XP_005269219.1:p.Gly1929=
XM_006719614.4:c.5796A= XP_006719677.1:p.Gly1932=
XM_006719616.3:c.5784A= XP_006719679.1:p.Gly1928=
XM_011538770.2:c.5796A= XP_011537072.1:p.Gly1932=
XM_011538771.2:c.5793A= XP_011537073.1:p.Gly1931=
XM_011538772.2:c.5787A= XP_011537074.1:p.Gly1929=
XM_011538773.2:c.5784A= XP_011537075.1:p.Gly1928=
XM_011538774.2:c.5796A= XP_011537076.1:p.Gly1932=
XM_011538776.2:c.5796A= XP_011537078.1:p.Gly1932=
XR_001748874.1:n.7105A=
NM_003482.4:c.5787A= MANE Select NP_003473.3:p.Gly1929=