Canonical Allele Identifier: CA2034963184
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49022367G= , CM000674.2:g.49022367G= GRCh38
NC_000012.11:g.49416150G= , CM000674.1:g.49416150G= GRCh37
NC_000012.10:g.47702417G= NCBI36
NG_027827.1:g.37958C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526209.2:c.309-14C=
ENST00000681974.1:n.1011-14C=
ENST00000682693.1:n.1973-14C=
ENST00000682886.1:n.731C=
ENST00000683543.2:c.16387-14C= ENSP00000506726.1:n.16387-14C=
ENST00000683988.1:c.310-14C= ENSP00000506939.1:n.310-14C=
ENST00000684428.1:c.918C= ENSP00000507433.1:p.Thr306=
ENST00000685024.1:c.1493-14C=
ENST00000685166.1:c.16348-14C= ENSP00000509386.1:n.16348-14C=
ENST00000691932.1:c.340-14C= ENSP00000509037.1:n.340-14C=
ENST00000692637.1:c.16336-14C= ENSP00000509666.1:n.16336-14C=
ENST00000301067.12:c.16339-14C= MANE Select ENSP00000301067.7:n.16339-14C=
ENST00000301067.11:c.16339-14C= ENSP00000301067.7:n.16339-14C=
ENST00000526209.1:c.382-14C= ENSP00000435714.1:n.382-14C=
NM_003482.3:c.16339-14C= NP_003473.3:n.16339-14C=
XM_005269162.3:c.16339-14C= XP_005269219.1:n.16339-14C=
XM_006719614.2:c.16348-14C= XP_006719677.1:n.16348-14C=
XM_006719616.2:c.16336-14C= XP_006719679.1:n.16336-14C=
XM_011538770.1:c.16396-14C= XP_011537072.1:n.16396-14C=
XM_011538771.1:c.16393-14C= XP_011537073.1:n.16393-14C=
XM_011538772.1:c.16387-14C= XP_011537074.1:n.16387-14C=
XM_011538773.1:c.16384-14C= XP_011537075.1:n.16384-14C=
XM_011538774.1:c.16375-14C= XP_011537076.1:n.16375-14C=
XM_011538775.1:c.16330-14C= XP_011537077.1:n.16330-14C=
XM_011538776.1:c.16303-14C= XP_011537078.1:n.16303-14C=
XM_005269162.4:c.16339-14C= XP_005269219.1:n.16339-14C=
XM_006719614.4:c.16348-14C= XP_006719677.1:n.16348-14C=
XM_006719616.3:c.16336-14C= XP_006719679.1:n.16336-14C=
XM_011538770.2:c.16396-14C= XP_011537072.1:n.16396-14C=
XM_011538771.2:c.16393-14C= XP_011537073.1:n.16393-14C=
XM_011538772.2:c.16387-14C= XP_011537074.1:n.16387-14C=
XM_011538773.2:c.16384-14C= XP_011537075.1:n.16384-14C=
XM_011538774.2:c.16375-14C= XP_011537076.1:n.16375-14C=
XM_011538776.2:c.16303-14C= XP_011537078.1:n.16303-14C=
XR_001748874.1:n.16516-14C=
NM_003482.4:c.16339-14C= MANE Select NP_003473.3:n.16339-14C=