Canonical Allele Identifier: CA384677323

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706128
• MyVariant Identifiers: chr12:g.49416374T>C (hg19) ; chr12:g.49022591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022591T>C , CM000674.2:g.49022591T>C	GRCh38
NC_000012.11:g.49416374T>C , CM000674.1:g.49416374T>C	GRCh37
NC_000012.10:g.47702641T>C	NCBI36
NG_027827.1:g.37734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.307A>G
ENST00000681974.1:n.1009A>G
ENST00000682693.1:n.1971A>G
ENST00000682886.1:n.507A>G
ENST00000683543.2:c.16385A>G	ENSP00000506726.1:p.Gln5462Arg
ENST00000683988.1:c.308A>G	ENSP00000506939.1:p.Gln103Arg
ENST00000684428.1:c.872A>G	ENSP00000507433.1:p.Gln291Arg
ENST00000684755.1:n.920A>G
ENST00000685024.1:c.1491A>G
ENST00000685166.1:c.16346A>G	ENSP00000509386.1:p.Gln5449Arg
ENST00000688411.1:c.814A>G	ENSP00000510146.1:n.814A>G
ENST00000691932.1:c.338A>G	ENSP00000509037.1:p.Gln113Arg
ENST00000692637.1:c.16334A>G	ENSP00000509666.1:p.Gln5445Arg
ENST00000301067.12:c.16337A>G MANE Select	ENSP00000301067.7:p.Gln5446Arg
ENST00000301067.11:c.16337A>G	ENSP00000301067.7:p.Gln5446Arg
ENST00000526209.1:c.380A>G	ENSP00000435714.1:p.Gln127Arg
NM_003482.3:c.16337A>G	NP_003473.3:p.Gln5446Arg
XM_005269162.3:c.16337A>G	XP_005269219.1:p.Gln5446Arg
XM_006719614.2:c.16346A>G	XP_006719677.1:p.Gln5449Arg
XM_006719616.2:c.16334A>G	XP_006719679.1:p.Gln5445Arg
XM_011538770.1:c.16394A>G	XP_011537072.1:p.Gln5465Arg
XM_011538771.1:c.16391A>G	XP_011537073.1:p.Gln5464Arg
XM_011538772.1:c.16385A>G	XP_011537074.1:p.Gln5462Arg
XM_011538773.1:c.16382A>G	XP_011537075.1:p.Gln5461Arg
XM_011538774.1:c.16373A>G	XP_011537076.1:p.Gln5458Arg
XM_011538775.1:c.16328A>G	XP_011537077.1:p.Gln5443Arg
XM_011538776.1:c.16301A>G	XP_011537078.1:p.Gln5434Arg
XM_005269162.4:c.16337A>G	XP_005269219.1:p.Gln5446Arg
XM_006719614.4:c.16346A>G	XP_006719677.1:p.Gln5449Arg
XM_006719616.3:c.16334A>G	XP_006719679.1:p.Gln5445Arg
XM_011538770.2:c.16394A>G	XP_011537072.1:p.Gln5465Arg
XM_011538771.2:c.16391A>G	XP_011537073.1:p.Gln5464Arg
XM_011538772.2:c.16385A>G	XP_011537074.1:p.Gln5462Arg
XM_011538773.2:c.16382A>G	XP_011537075.1:p.Gln5461Arg
XM_011538774.2:c.16373A>G	XP_011537076.1:p.Gln5458Arg
XM_011538776.2:c.16301A>G	XP_011537078.1:p.Gln5434Arg
XR_001748874.1:n.16514A>G
NM_003482.4:c.16337A>G MANE Select	NP_003473.3:p.Gln5446Arg