Canonical Allele Identifier: CA479521668

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418405A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024622A>G , CM000674.2:g.49024622A>G	GRCh38
NC_000012.11:g.49418405A>G , CM000674.1:g.49418405A>G	GRCh37
NC_000012.10:g.47704672A>G	NCBI36
NG_027827.1:g.35703T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.680T>C
ENST00000683543.2:c.16008T>C	ENSP00000506726.1:p.Thr5336=
ENST00000683863.1:n.1723T>C
ENST00000684428.1:c.543T>C	ENSP00000507433.1:p.Thr181=
ENST00000684755.1:n.543T>C
ENST00000685024.1:c.1162T>C
ENST00000685166.1:c.16017T>C	ENSP00000509386.1:p.Thr5339=
ENST00000688411.1:c.485T>C	ENSP00000510146.1:n.485T>C
ENST00000691932.1:c.87T>C	ENSP00000509037.1:p.Thr29=
ENST00000692637.1:c.16005T>C	ENSP00000509666.1:p.Thr5335=
ENST00000301067.12:c.16008T>C MANE Select	ENSP00000301067.7:p.Thr5336=
ENST00000301067.11:c.16008T>C	ENSP00000301067.7:p.Thr5336=
ENST00000526209.1:c.3T>C	ENSP00000435714.1:p.Thr1=
NM_003482.3:c.16008T>C	NP_003473.3:p.Thr5336=
XM_005269162.3:c.16008T>C	XP_005269219.1:p.Thr5336=
XM_006719614.2:c.16017T>C	XP_006719677.1:p.Thr5339=
XM_006719616.2:c.16005T>C	XP_006719679.1:p.Thr5335=
XM_011538770.1:c.16017T>C	XP_011537072.1:p.Thr5339=
XM_011538771.1:c.16014T>C	XP_011537073.1:p.Thr5338=
XM_011538772.1:c.16008T>C	XP_011537074.1:p.Thr5336=
XM_011538773.1:c.16005T>C	XP_011537075.1:p.Thr5335=
XM_011538774.1:c.15996T>C	XP_011537076.1:p.Thr5332=
XM_011538775.1:c.15951T>C	XP_011537077.1:p.Thr5317=
XM_011538776.1:c.15924T>C	XP_011537078.1:p.Thr5308=
XM_005269162.4:c.16008T>C	XP_005269219.1:p.Thr5336=
XM_006719614.4:c.16017T>C	XP_006719677.1:p.Thr5339=
XM_006719616.3:c.16005T>C	XP_006719679.1:p.Thr5335=
XM_011538770.2:c.16017T>C	XP_011537072.1:p.Thr5339=
XM_011538771.2:c.16014T>C	XP_011537073.1:p.Thr5338=
XM_011538772.2:c.16008T>C	XP_011537074.1:p.Thr5336=
XM_011538773.2:c.16005T>C	XP_011537075.1:p.Thr5335=
XM_011538774.2:c.15996T>C	XP_011537076.1:p.Thr5332=
XM_011538776.2:c.15924T>C	XP_011537078.1:p.Thr5308=
XR_001748874.1:n.16185T>C
NM_003482.4:c.16008T>C MANE Select	NP_003473.3:p.Thr5336=