Canonical Allele Identifier: CA384677687

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706495
• MyVariant Identifiers: chr12:g.49416429C>G (hg19) ; chr12:g.49022646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022646C>G , CM000674.2:g.49022646C>G	GRCh38
NC_000012.11:g.49416429C>G , CM000674.1:g.49416429C>G	GRCh37
NC_000012.10:g.47702696C>G	NCBI36
NG_027827.1:g.37679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.252G>C
ENST00000681974.1:n.954G>C
ENST00000682693.1:n.1916G>C
ENST00000682886.1:n.452G>C
ENST00000683543.2:c.16330G>C	ENSP00000506726.1:p.Gly5444Arg
ENST00000683988.1:c.253G>C	ENSP00000506939.1:p.Gly85Arg
ENST00000684428.1:c.817G>C	ENSP00000507433.1:p.Gly273Arg
ENST00000684755.1:n.865G>C
ENST00000685024.1:c.1436G>C
ENST00000685166.1:c.16291G>C	ENSP00000509386.1:p.Gly5431Arg
ENST00000688411.1:c.759G>C	ENSP00000510146.1:n.759G>C
ENST00000691932.1:c.283G>C	ENSP00000509037.1:p.Gly95Arg
ENST00000692637.1:c.16279G>C	ENSP00000509666.1:p.Gly5427Arg
ENST00000301067.12:c.16282G>C MANE Select	ENSP00000301067.7:p.Gly5428Arg
ENST00000301067.11:c.16282G>C	ENSP00000301067.7:p.Gly5428Arg
ENST00000526209.1:c.325G>C	ENSP00000435714.1:p.Gly109Arg
NM_003482.3:c.16282G>C	NP_003473.3:p.Gly5428Arg
XM_005269162.3:c.16282G>C	XP_005269219.1:p.Gly5428Arg
XM_006719614.2:c.16291G>C	XP_006719677.1:p.Gly5431Arg
XM_006719616.2:c.16279G>C	XP_006719679.1:p.Gly5427Arg
XM_011538770.1:c.16339G>C	XP_011537072.1:p.Gly5447Arg
XM_011538771.1:c.16336G>C	XP_011537073.1:p.Gly5446Arg
XM_011538772.1:c.16330G>C	XP_011537074.1:p.Gly5444Arg
XM_011538773.1:c.16327G>C	XP_011537075.1:p.Gly5443Arg
XM_011538774.1:c.16318G>C	XP_011537076.1:p.Gly5440Arg
XM_011538775.1:c.16273G>C	XP_011537077.1:p.Gly5425Arg
XM_011538776.1:c.16246G>C	XP_011537078.1:p.Gly5416Arg
XM_005269162.4:c.16282G>C	XP_005269219.1:p.Gly5428Arg
XM_006719614.4:c.16291G>C	XP_006719677.1:p.Gly5431Arg
XM_006719616.3:c.16279G>C	XP_006719679.1:p.Gly5427Arg
XM_011538770.2:c.16339G>C	XP_011537072.1:p.Gly5447Arg
XM_011538771.2:c.16336G>C	XP_011537073.1:p.Gly5446Arg
XM_011538772.2:c.16330G>C	XP_011537074.1:p.Gly5444Arg
XM_011538773.2:c.16327G>C	XP_011537075.1:p.Gly5443Arg
XM_011538774.2:c.16318G>C	XP_011537076.1:p.Gly5440Arg
XM_011538776.2:c.16246G>C	XP_011537078.1:p.Gly5416Arg
XR_001748874.1:n.16459G>C
NM_003482.4:c.16282G>C MANE Select	NP_003473.3:p.Gly5428Arg