Canonical Allele Identifier: CA384677316

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706117
• COSMIC: COSM3398764 ; COSM3398765
• MyVariant Identifiers: chr12:g.49416373C>G (hg19) ; chr12:g.49022590C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022590C>G , CM000674.2:g.49022590C>G	GRCh38
NC_000012.11:g.49416373C>G , CM000674.1:g.49416373C>G	GRCh37
NC_000012.10:g.47702640C>G	NCBI36
NG_027827.1:g.37735G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.308G>C
ENST00000681974.1:n.1010G>C
ENST00000682693.1:n.1972G>C
ENST00000682886.1:n.508G>C
ENST00000683543.2:c.16386G>C	ENSP00000506726.1:p.Gln5462His
ENST00000683988.1:c.309G>C	ENSP00000506939.1:p.Gln103His
ENST00000684428.1:c.873G>C	ENSP00000507433.1:p.Gln291His
ENST00000684755.1:n.921G>C
ENST00000685024.1:c.1492G>C
ENST00000685166.1:c.16347G>C	ENSP00000509386.1:p.Gln5449His
ENST00000688411.1:c.815G>C	ENSP00000510146.1:n.815G>C
ENST00000691932.1:c.339G>C	ENSP00000509037.1:p.Gln113His
ENST00000692637.1:c.16335G>C	ENSP00000509666.1:p.Gln5445His
ENST00000301067.12:c.16338G>C MANE Select	ENSP00000301067.7:p.Gln5446His
ENST00000301067.11:c.16338G>C	ENSP00000301067.7:p.Gln5446His
ENST00000526209.1:c.381G>C	ENSP00000435714.1:p.Gln127His
NM_003482.3:c.16338G>C	NP_003473.3:p.Gln5446His
XM_005269162.3:c.16338G>C	XP_005269219.1:p.Gln5446His
XM_006719614.2:c.16347G>C	XP_006719677.1:p.Gln5449His
XM_006719616.2:c.16335G>C	XP_006719679.1:p.Gln5445His
XM_011538770.1:c.16395G>C	XP_011537072.1:p.Gln5465His
XM_011538771.1:c.16392G>C	XP_011537073.1:p.Gln5464His
XM_011538772.1:c.16386G>C	XP_011537074.1:p.Gln5462His
XM_011538773.1:c.16383G>C	XP_011537075.1:p.Gln5461His
XM_011538774.1:c.16374G>C	XP_011537076.1:p.Gln5458His
XM_011538775.1:c.16329G>C	XP_011537077.1:p.Gln5443His
XM_011538776.1:c.16302G>C	XP_011537078.1:p.Gln5434His
XM_005269162.4:c.16338G>C	XP_005269219.1:p.Gln5446His
XM_006719614.4:c.16347G>C	XP_006719677.1:p.Gln5449His
XM_006719616.3:c.16335G>C	XP_006719679.1:p.Gln5445His
XM_011538770.2:c.16395G>C	XP_011537072.1:p.Gln5465His
XM_011538771.2:c.16392G>C	XP_011537073.1:p.Gln5464His
XM_011538772.2:c.16386G>C	XP_011537074.1:p.Gln5462His
XM_011538773.2:c.16383G>C	XP_011537075.1:p.Gln5461His
XM_011538774.2:c.16374G>C	XP_011537076.1:p.Gln5458His
XM_011538776.2:c.16302G>C	XP_011537078.1:p.Gln5434His
XR_001748874.1:n.16515G>C
NM_003482.4:c.16338G>C MANE Select	NP_003473.3:p.Gln5446His