Canonical Allele Identifier: CA384681379

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418407T>A (hg19) ; chr12:g.49024624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024624T>A , CM000674.2:g.49024624T>A	GRCh38
NC_000012.11:g.49418407T>A , CM000674.1:g.49418407T>A	GRCh37
NC_000012.10:g.47704674T>A	NCBI36
NG_027827.1:g.35701A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.678A>T
ENST00000683543.2:c.16006A>T	ENSP00000506726.1:p.Thr5336Ser
ENST00000683863.1:n.1721A>T
ENST00000684428.1:c.541A>T	ENSP00000507433.1:p.Thr181Ser
ENST00000684755.1:n.541A>T
ENST00000685024.1:c.1160A>T
ENST00000685166.1:c.16015A>T	ENSP00000509386.1:p.Thr5339Ser
ENST00000688411.1:c.483A>T	ENSP00000510146.1:n.483A>T
ENST00000691932.1:c.85A>T	ENSP00000509037.1:p.Thr29Ser
ENST00000692637.1:c.16003A>T	ENSP00000509666.1:p.Thr5335Ser
ENST00000301067.12:c.16006A>T MANE Select	ENSP00000301067.7:p.Thr5336Ser
ENST00000301067.11:c.16006A>T	ENSP00000301067.7:p.Thr5336Ser
ENST00000526209.1:c.1A>T	ENSP00000435714.1:p.Thr1Ser
NM_003482.3:c.16006A>T	NP_003473.3:p.Thr5336Ser
XM_005269162.3:c.16006A>T	XP_005269219.1:p.Thr5336Ser
XM_006719614.2:c.16015A>T	XP_006719677.1:p.Thr5339Ser
XM_006719616.2:c.16003A>T	XP_006719679.1:p.Thr5335Ser
XM_011538770.1:c.16015A>T	XP_011537072.1:p.Thr5339Ser
XM_011538771.1:c.16012A>T	XP_011537073.1:p.Thr5338Ser
XM_011538772.1:c.16006A>T	XP_011537074.1:p.Thr5336Ser
XM_011538773.1:c.16003A>T	XP_011537075.1:p.Thr5335Ser
XM_011538774.1:c.15994A>T	XP_011537076.1:p.Thr5332Ser
XM_011538775.1:c.15949A>T	XP_011537077.1:p.Thr5317Ser
XM_011538776.1:c.15922A>T	XP_011537078.1:p.Thr5308Ser
XM_005269162.4:c.16006A>T	XP_005269219.1:p.Thr5336Ser
XM_006719614.4:c.16015A>T	XP_006719677.1:p.Thr5339Ser
XM_006719616.3:c.16003A>T	XP_006719679.1:p.Thr5335Ser
XM_011538770.2:c.16015A>T	XP_011537072.1:p.Thr5339Ser
XM_011538771.2:c.16012A>T	XP_011537073.1:p.Thr5338Ser
XM_011538772.2:c.16006A>T	XP_011537074.1:p.Thr5336Ser
XM_011538773.2:c.16003A>T	XP_011537075.1:p.Thr5335Ser
XM_011538774.2:c.15994A>T	XP_011537076.1:p.Thr5332Ser
XM_011538776.2:c.15922A>T	XP_011537078.1:p.Thr5308Ser
XR_001748874.1:n.16183A>T
NM_003482.4:c.16006A>T MANE Select	NP_003473.3:p.Thr5336Ser