Canonical Allele Identifier: CA384681368

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418406G>A (hg19) ; chr12:g.49024623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024623G>A , CM000674.2:g.49024623G>A	GRCh38
NC_000012.11:g.49418406G>A , CM000674.1:g.49418406G>A	GRCh37
NC_000012.10:g.47704673G>A	NCBI36
NG_027827.1:g.35702C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.679C>T
ENST00000683543.2:c.16007C>T	ENSP00000506726.1:p.Thr5336Ile
ENST00000683863.1:n.1722C>T
ENST00000684428.1:c.542C>T	ENSP00000507433.1:p.Thr181Ile
ENST00000684755.1:n.542C>T
ENST00000685024.1:c.1161C>T
ENST00000685166.1:c.16016C>T	ENSP00000509386.1:p.Thr5339Ile
ENST00000688411.1:c.484C>T	ENSP00000510146.1:n.484C>T
ENST00000691932.1:c.86C>T	ENSP00000509037.1:p.Thr29Ile
ENST00000692637.1:c.16004C>T	ENSP00000509666.1:p.Thr5335Ile
ENST00000301067.12:c.16007C>T MANE Select	ENSP00000301067.7:p.Thr5336Ile
ENST00000301067.11:c.16007C>T	ENSP00000301067.7:p.Thr5336Ile
ENST00000526209.1:c.2C>T	ENSP00000435714.1:p.Thr1Ile
NM_003482.3:c.16007C>T	NP_003473.3:p.Thr5336Ile
XM_005269162.3:c.16007C>T	XP_005269219.1:p.Thr5336Ile
XM_006719614.2:c.16016C>T	XP_006719677.1:p.Thr5339Ile
XM_006719616.2:c.16004C>T	XP_006719679.1:p.Thr5335Ile
XM_011538770.1:c.16016C>T	XP_011537072.1:p.Thr5339Ile
XM_011538771.1:c.16013C>T	XP_011537073.1:p.Thr5338Ile
XM_011538772.1:c.16007C>T	XP_011537074.1:p.Thr5336Ile
XM_011538773.1:c.16004C>T	XP_011537075.1:p.Thr5335Ile
XM_011538774.1:c.15995C>T	XP_011537076.1:p.Thr5332Ile
XM_011538775.1:c.15950C>T	XP_011537077.1:p.Thr5317Ile
XM_011538776.1:c.15923C>T	XP_011537078.1:p.Thr5308Ile
XM_005269162.4:c.16007C>T	XP_005269219.1:p.Thr5336Ile
XM_006719614.4:c.16016C>T	XP_006719677.1:p.Thr5339Ile
XM_006719616.3:c.16004C>T	XP_006719679.1:p.Thr5335Ile
XM_011538770.2:c.16016C>T	XP_011537072.1:p.Thr5339Ile
XM_011538771.2:c.16013C>T	XP_011537073.1:p.Thr5338Ile
XM_011538772.2:c.16007C>T	XP_011537074.1:p.Thr5336Ile
XM_011538773.2:c.16004C>T	XP_011537075.1:p.Thr5335Ile
XM_011538774.2:c.15995C>T	XP_011537076.1:p.Thr5332Ile
XM_011538776.2:c.15923C>T	XP_011537078.1:p.Thr5308Ile
XR_001748874.1:n.16184C>T
NM_003482.4:c.16007C>T MANE Select	NP_003473.3:p.Thr5336Ile