Canonical Allele Identifier: CA384676037

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703790
• MyVariant Identifiers: chr12:g.49415887G>A (hg19) ; chr12:g.49022104G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.430C>T
ENST00000681974.1:n.1132C>T
ENST00000682693.1:n.2094C>T
ENST00000682886.1:n.866C>T
ENST00000683543.2:c.16508C>T	ENSP00000506726.1:p.Thr5503Ile
ENST00000683988.1:c.431C>T	ENSP00000506939.1:p.Thr144Ile
ENST00000684428.1:c.1053C>T	ENSP00000507433.1:n.1053C>T
ENST00000685024.1:c.1614C>T
ENST00000685166.1:c.16469C>T	ENSP00000509386.1:p.Thr5490Ile
ENST00000691932.1:c.461C>T	ENSP00000509037.1:p.Thr154Ile
ENST00000692637.1:c.16457C>T	ENSP00000509666.1:p.Thr5486Ile
ENST00000301067.12:c.16460C>T MANE Select	ENSP00000301067.7:p.Thr5487Ile
ENST00000301067.11:c.16460C>T	ENSP00000301067.7:p.Thr5487Ile
ENST00000526209.1:c.503C>T	ENSP00000435714.1:p.Thr168Ile
NM_003482.3:c.16460C>T	NP_003473.3:p.Thr5487Ile
XM_005269162.3:c.16460C>T	XP_005269219.1:p.Thr5487Ile
XM_006719614.2:c.16469C>T	XP_006719677.1:p.Thr5490Ile
XM_006719616.2:c.16457C>T	XP_006719679.1:p.Thr5486Ile
XM_011538770.1:c.16517C>T	XP_011537072.1:p.Thr5506Ile
XM_011538771.1:c.16514C>T	XP_011537073.1:p.Thr5505Ile
XM_011538772.1:c.16508C>T	XP_011537074.1:p.Thr5503Ile
XM_011538773.1:c.16505C>T	XP_011537075.1:p.Thr5502Ile
XM_011538774.1:c.16496C>T	XP_011537076.1:p.Thr5499Ile
XM_011538775.1:c.16451C>T	XP_011537077.1:p.Thr5484Ile
XM_011538776.1:c.16424C>T	XP_011537078.1:p.Thr5475Ile
XM_005269162.4:c.16460C>T	XP_005269219.1:p.Thr5487Ile
XM_006719614.4:c.16469C>T	XP_006719677.1:p.Thr5490Ile
XM_006719616.3:c.16457C>T	XP_006719679.1:p.Thr5486Ile
XM_011538770.2:c.16517C>T	XP_011537072.1:p.Thr5506Ile
XM_011538771.2:c.16514C>T	XP_011537073.1:p.Thr5505Ile
XM_011538772.2:c.16508C>T	XP_011537074.1:p.Thr5503Ile
XM_011538773.2:c.16505C>T	XP_011537075.1:p.Thr5502Ile
XM_011538774.2:c.16496C>T	XP_011537076.1:p.Thr5499Ile
XM_011538776.2:c.16424C>T	XP_011537078.1:p.Thr5475Ile
XR_001748874.1:n.16637C>T
NM_003482.4:c.16460C>T MANE Select	NP_003473.3:p.Thr5487Ile