Canonical Allele Identifier: CA384676039

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415887G>T (hg19) ; chr12:g.49022104G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022104G>T , CM000674.2:g.49022104G>T	GRCh38
NC_000012.11:g.49415887G>T , CM000674.1:g.49415887G>T	GRCh37
NC_000012.10:g.47702154G>T	NCBI36
NG_027827.1:g.38221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.430C>A
ENST00000681974.1:n.1132C>A
ENST00000682693.1:n.2094C>A
ENST00000682886.1:n.866C>A
ENST00000683543.2:c.16508C>A	ENSP00000506726.1:p.Thr5503Lys
ENST00000683988.1:c.431C>A	ENSP00000506939.1:p.Thr144Lys
ENST00000684428.1:c.1053C>A	ENSP00000507433.1:n.1053C>A
ENST00000685024.1:c.1614C>A
ENST00000685166.1:c.16469C>A	ENSP00000509386.1:p.Thr5490Lys
ENST00000691932.1:c.461C>A	ENSP00000509037.1:p.Thr154Lys
ENST00000692637.1:c.16457C>A	ENSP00000509666.1:p.Thr5486Lys
ENST00000301067.12:c.16460C>A MANE Select	ENSP00000301067.7:p.Thr5487Lys
ENST00000301067.11:c.16460C>A	ENSP00000301067.7:p.Thr5487Lys
ENST00000526209.1:c.503C>A	ENSP00000435714.1:p.Thr168Lys
NM_003482.3:c.16460C>A	NP_003473.3:p.Thr5487Lys
XM_005269162.3:c.16460C>A	XP_005269219.1:p.Thr5487Lys
XM_006719614.2:c.16469C>A	XP_006719677.1:p.Thr5490Lys
XM_006719616.2:c.16457C>A	XP_006719679.1:p.Thr5486Lys
XM_011538770.1:c.16517C>A	XP_011537072.1:p.Thr5506Lys
XM_011538771.1:c.16514C>A	XP_011537073.1:p.Thr5505Lys
XM_011538772.1:c.16508C>A	XP_011537074.1:p.Thr5503Lys
XM_011538773.1:c.16505C>A	XP_011537075.1:p.Thr5502Lys
XM_011538774.1:c.16496C>A	XP_011537076.1:p.Thr5499Lys
XM_011538775.1:c.16451C>A	XP_011537077.1:p.Thr5484Lys
XM_011538776.1:c.16424C>A	XP_011537078.1:p.Thr5475Lys
XM_005269162.4:c.16460C>A	XP_005269219.1:p.Thr5487Lys
XM_006719614.4:c.16469C>A	XP_006719677.1:p.Thr5490Lys
XM_006719616.3:c.16457C>A	XP_006719679.1:p.Thr5486Lys
XM_011538770.2:c.16517C>A	XP_011537072.1:p.Thr5506Lys
XM_011538771.2:c.16514C>A	XP_011537073.1:p.Thr5505Lys
XM_011538772.2:c.16508C>A	XP_011537074.1:p.Thr5503Lys
XM_011538773.2:c.16505C>A	XP_011537075.1:p.Thr5502Lys
XM_011538774.2:c.16496C>A	XP_011537076.1:p.Thr5499Lys
XM_011538776.2:c.16424C>A	XP_011537078.1:p.Thr5475Lys
XR_001748874.1:n.16637C>A
NM_003482.4:c.16460C>A MANE Select	NP_003473.3:p.Thr5487Lys