Canonical Allele Identifier: CA479522138

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711796
• MyVariant Identifiers: chr12:g.49418668T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024885T>G , CM000674.2:g.49024885T>G	GRCh38
NC_000012.11:g.49418668T>G , CM000674.1:g.49418668T>G	GRCh37
NC_000012.10:g.47704935T>G	NCBI36
NG_027827.1:g.35440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.518A>C
ENST00000683543.2:c.15846A>C	ENSP00000506726.1:p.Arg5282=
ENST00000683863.1:n.1561A>C
ENST00000684428.1:c.381A>C	ENSP00000507433.1:p.Arg127=
ENST00000684755.1:n.381A>C
ENST00000685024.1:c.971A>C
ENST00000685166.1:c.15855A>C	ENSP00000509386.1:p.Arg5285=
ENST00000688411.1:c.323A>C	ENSP00000510146.1:n.323A>C
ENST00000691463.1:c.1232A>C	ENSP00000510624.1:n.1232A>C
ENST00000692637.1:c.15843A>C	ENSP00000509666.1:p.Arg5281=
ENST00000301067.12:c.15846A>C MANE Select	ENSP00000301067.7:p.Arg5282=
ENST00000301067.11:c.15846A>C	ENSP00000301067.7:p.Arg5282=
NM_003482.3:c.15846A>C	NP_003473.3:p.Arg5282=
XM_005269162.3:c.15846A>C	XP_005269219.1:p.Arg5282=
XM_006719614.2:c.15855A>C	XP_006719677.1:p.Arg5285=
XM_006719616.2:c.15843A>C	XP_006719679.1:p.Arg5281=
XM_011538770.1:c.15855A>C	XP_011537072.1:p.Arg5285=
XM_011538771.1:c.15852A>C	XP_011537073.1:p.Arg5284=
XM_011538772.1:c.15846A>C	XP_011537074.1:p.Arg5282=
XM_011538773.1:c.15843A>C	XP_011537075.1:p.Arg5281=
XM_011538774.1:c.15834A>C	XP_011537076.1:p.Arg5278=
XM_011538775.1:c.15789A>C	XP_011537077.1:p.Arg5263=
XM_011538776.1:c.15762A>C	XP_011537078.1:p.Arg5254=
XR_944740.1:n.17034A>C
XM_005269162.4:c.15846A>C	XP_005269219.1:p.Arg5282=
XM_006719614.4:c.15855A>C	XP_006719677.1:p.Arg5285=
XM_006719616.3:c.15843A>C	XP_006719679.1:p.Arg5281=
XM_011538770.2:c.15855A>C	XP_011537072.1:p.Arg5285=
XM_011538771.2:c.15852A>C	XP_011537073.1:p.Arg5284=
XM_011538772.2:c.15846A>C	XP_011537074.1:p.Arg5282=
XM_011538773.2:c.15843A>C	XP_011537075.1:p.Arg5281=
XM_011538774.2:c.15834A>C	XP_011537076.1:p.Arg5278=
XM_011538776.2:c.15762A>C	XP_011537078.1:p.Arg5254=
XR_001748874.1:n.16023A>C
NM_003482.4:c.15846A>C MANE Select	NP_003473.3:p.Arg5282=