Canonical Allele Identifier: CA479520852

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703572
• MyVariant Identifiers: chr12:g.49415847C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022064C>G , CM000674.2:g.49022064C>G	GRCh38
NC_000012.11:g.49415847C>G , CM000674.1:g.49415847C>G	GRCh37
NC_000012.10:g.47702114C>G	NCBI36
NG_027827.1:g.38261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.470G>C
ENST00000681974.1:n.1172G>C
ENST00000682693.1:n.2134G>C
ENST00000682886.1:n.906G>C
ENST00000683543.2:c.16548G>C	ENSP00000506726.1:p.Arg5516=
ENST00000683988.1:c.471G>C	ENSP00000506939.1:p.Arg157=
ENST00000684428.1:c.1093G>C	ENSP00000507433.1:n.1093G>C
ENST00000685024.1:c.1654G>C
ENST00000685166.1:c.16509G>C	ENSP00000509386.1:p.Arg5503=
ENST00000691932.1:c.501G>C	ENSP00000509037.1:p.Arg167=
ENST00000692637.1:c.16497G>C	ENSP00000509666.1:p.Arg5499=
ENST00000301067.12:c.16500G>C MANE Select	ENSP00000301067.7:p.Arg5500=
ENST00000301067.11:c.16500G>C	ENSP00000301067.7:p.Arg5500=
ENST00000526209.1:c.543G>C	ENSP00000435714.1:p.Arg181=
NM_003482.3:c.16500G>C	NP_003473.3:p.Arg5500=
XM_005269162.3:c.16500G>C	XP_005269219.1:p.Arg5500=
XM_006719614.2:c.16509G>C	XP_006719677.1:p.Arg5503=
XM_006719616.2:c.16497G>C	XP_006719679.1:p.Arg5499=
XM_011538770.1:c.16557G>C	XP_011537072.1:p.Arg5519=
XM_011538771.1:c.16554G>C	XP_011537073.1:p.Arg5518=
XM_011538772.1:c.16548G>C	XP_011537074.1:p.Arg5516=
XM_011538773.1:c.16545G>C	XP_011537075.1:p.Arg5515=
XM_011538774.1:c.16536G>C	XP_011537076.1:p.Arg5512=
XM_011538775.1:c.16491G>C	XP_011537077.1:p.Arg5497=
XM_011538776.1:c.16464G>C	XP_011537078.1:p.Arg5488=
XM_005269162.4:c.16500G>C	XP_005269219.1:p.Arg5500=
XM_006719614.4:c.16509G>C	XP_006719677.1:p.Arg5503=
XM_006719616.3:c.16497G>C	XP_006719679.1:p.Arg5499=
XM_011538770.2:c.16557G>C	XP_011537072.1:p.Arg5519=
XM_011538771.2:c.16554G>C	XP_011537073.1:p.Arg5518=
XM_011538772.2:c.16548G>C	XP_011537074.1:p.Arg5516=
XM_011538773.2:c.16545G>C	XP_011537075.1:p.Arg5515=
XM_011538774.2:c.16536G>C	XP_011537076.1:p.Arg5512=
XM_011538776.2:c.16464G>C	XP_011537078.1:p.Arg5488=
XR_001748874.1:n.16677G>C
NM_003482.4:c.16500G>C MANE Select	NP_003473.3:p.Arg5500=