Canonical Allele Identifier: CA384677614

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416417G>C (hg19) ; chr12:g.49022634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022634G>C , CM000674.2:g.49022634G>C	GRCh38
NC_000012.11:g.49416417G>C , CM000674.1:g.49416417G>C	GRCh37
NC_000012.10:g.47702684G>C	NCBI36
NG_027827.1:g.37691C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.264C>G
ENST00000681974.1:n.966C>G
ENST00000682693.1:n.1928C>G
ENST00000682886.1:n.464C>G
ENST00000683543.2:c.16342C>G	ENSP00000506726.1:p.Arg5448Gly
ENST00000683988.1:c.265C>G	ENSP00000506939.1:p.Arg89Gly
ENST00000684428.1:c.829C>G	ENSP00000507433.1:p.Arg277Gly
ENST00000684755.1:n.877C>G
ENST00000685024.1:c.1448C>G
ENST00000685166.1:c.16303C>G	ENSP00000509386.1:p.Arg5435Gly
ENST00000688411.1:c.771C>G	ENSP00000510146.1:n.771C>G
ENST00000691932.1:c.295C>G	ENSP00000509037.1:p.Arg99Gly
ENST00000692637.1:c.16291C>G	ENSP00000509666.1:p.Arg5431Gly
ENST00000301067.12:c.16294C>G MANE Select	ENSP00000301067.7:p.Arg5432Gly
ENST00000301067.11:c.16294C>G	ENSP00000301067.7:p.Arg5432Gly
ENST00000526209.1:c.337C>G	ENSP00000435714.1:p.Arg113Gly
NM_003482.3:c.16294C>G	NP_003473.3:p.Arg5432Gly
XM_005269162.3:c.16294C>G	XP_005269219.1:p.Arg5432Gly
XM_006719614.2:c.16303C>G	XP_006719677.1:p.Arg5435Gly
XM_006719616.2:c.16291C>G	XP_006719679.1:p.Arg5431Gly
XM_011538770.1:c.16351C>G	XP_011537072.1:p.Arg5451Gly
XM_011538771.1:c.16348C>G	XP_011537073.1:p.Arg5450Gly
XM_011538772.1:c.16342C>G	XP_011537074.1:p.Arg5448Gly
XM_011538773.1:c.16339C>G	XP_011537075.1:p.Arg5447Gly
XM_011538774.1:c.16330C>G	XP_011537076.1:p.Arg5444Gly
XM_011538775.1:c.16285C>G	XP_011537077.1:p.Arg5429Gly
XM_011538776.1:c.16258C>G	XP_011537078.1:p.Arg5420Gly
XM_005269162.4:c.16294C>G	XP_005269219.1:p.Arg5432Gly
XM_006719614.4:c.16303C>G	XP_006719677.1:p.Arg5435Gly
XM_006719616.3:c.16291C>G	XP_006719679.1:p.Arg5431Gly
XM_011538770.2:c.16351C>G	XP_011537072.1:p.Arg5451Gly
XM_011538771.2:c.16348C>G	XP_011537073.1:p.Arg5450Gly
XM_011538772.2:c.16342C>G	XP_011537074.1:p.Arg5448Gly
XM_011538773.2:c.16339C>G	XP_011537075.1:p.Arg5447Gly
XM_011538774.2:c.16330C>G	XP_011537076.1:p.Arg5444Gly
XM_011538776.2:c.16258C>G	XP_011537078.1:p.Arg5420Gly
XR_001748874.1:n.16471C>G
NM_003482.4:c.16294C>G MANE Select	NP_003473.3:p.Arg5432Gly