Canonical Allele Identifier: CA2034963168
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49022333G= , CM000674.2:g.49022333G= GRCh38
NC_000012.11:g.49416116G= , CM000674.1:g.49416116G= GRCh37
NC_000012.10:g.47702383G= NCBI36
NG_027827.1:g.37992C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526209.2:c.329C=
ENST00000681974.1:n.1031C=
ENST00000682693.1:n.1993C=
ENST00000682886.1:n.765C=
ENST00000683543.2:c.16407C= ENSP00000506726.1:p.Phe5469=
ENST00000683988.1:c.330C= ENSP00000506939.1:p.Phe110=
ENST00000684428.1:c.952C= ENSP00000507433.1:p.Pro318=
ENST00000685024.1:c.1513C=
ENST00000685166.1:c.16368C= ENSP00000509386.1:p.Phe5456=
ENST00000691932.1:c.360C= ENSP00000509037.1:p.Phe120=
ENST00000692637.1:c.16356C= ENSP00000509666.1:p.Phe5452=
ENST00000301067.12:c.16359C= MANE Select ENSP00000301067.7:p.Phe5453=
ENST00000301067.11:c.16359C= ENSP00000301067.7:p.Phe5453=
ENST00000526209.1:c.402C= ENSP00000435714.1:p.Phe134=
NM_003482.3:c.16359C= NP_003473.3:p.Phe5453=
XM_005269162.3:c.16359C= XP_005269219.1:p.Phe5453=
XM_006719614.2:c.16368C= XP_006719677.1:p.Phe5456=
XM_006719616.2:c.16356C= XP_006719679.1:p.Phe5452=
XM_011538770.1:c.16416C= XP_011537072.1:p.Phe5472=
XM_011538771.1:c.16413C= XP_011537073.1:p.Phe5471=
XM_011538772.1:c.16407C= XP_011537074.1:p.Phe5469=
XM_011538773.1:c.16404C= XP_011537075.1:p.Phe5468=
XM_011538774.1:c.16395C= XP_011537076.1:p.Phe5465=
XM_011538775.1:c.16350C= XP_011537077.1:p.Phe5450=
XM_011538776.1:c.16323C= XP_011537078.1:p.Phe5441=
XM_005269162.4:c.16359C= XP_005269219.1:p.Phe5453=
XM_006719614.4:c.16368C= XP_006719677.1:p.Phe5456=
XM_006719616.3:c.16356C= XP_006719679.1:p.Phe5452=
XM_011538770.2:c.16416C= XP_011537072.1:p.Phe5472=
XM_011538771.2:c.16413C= XP_011537073.1:p.Phe5471=
XM_011538772.2:c.16407C= XP_011537074.1:p.Phe5469=
XM_011538773.2:c.16404C= XP_011537075.1:p.Phe5468=
XM_011538774.2:c.16395C= XP_011537076.1:p.Phe5465=
XM_011538776.2:c.16323C= XP_011537078.1:p.Phe5441=
XR_001748874.1:n.16536C=
NM_003482.4:c.16359C= MANE Select NP_003473.3:p.Phe5453=