Canonical Allele Identifier: CA384677153

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137705158
• MyVariant Identifiers: chr12:g.49416129C>A (hg19) ; chr12:g.49022346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022346C>A , CM000674.2:g.49022346C>A	GRCh38
NC_000012.11:g.49416129C>A , CM000674.1:g.49416129C>A	GRCh37
NC_000012.10:g.47702396C>A	NCBI36
NG_027827.1:g.37979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.316G>T
ENST00000681974.1:n.1018G>T
ENST00000682693.1:n.1980G>T
ENST00000682886.1:n.752G>T
ENST00000683543.2:c.16394G>T	ENSP00000506726.1:p.Gly5465Val
ENST00000683988.1:c.317G>T	ENSP00000506939.1:p.Gly106Val
ENST00000684428.1:c.939G>T	ENSP00000507433.1:p.Arg313Ser
ENST00000685024.1:c.1500G>T
ENST00000685166.1:c.16355G>T	ENSP00000509386.1:p.Gly5452Val
ENST00000691932.1:c.347G>T	ENSP00000509037.1:p.Gly116Val
ENST00000692637.1:c.16343G>T	ENSP00000509666.1:p.Gly5448Val
ENST00000301067.12:c.16346G>T MANE Select	ENSP00000301067.7:p.Gly5449Val
ENST00000301067.11:c.16346G>T	ENSP00000301067.7:p.Gly5449Val
ENST00000526209.1:c.389G>T	ENSP00000435714.1:p.Gly130Val
NM_003482.3:c.16346G>T	NP_003473.3:p.Gly5449Val
XM_005269162.3:c.16346G>T	XP_005269219.1:p.Gly5449Val
XM_006719614.2:c.16355G>T	XP_006719677.1:p.Gly5452Val
XM_006719616.2:c.16343G>T	XP_006719679.1:p.Gly5448Val
XM_011538770.1:c.16403G>T	XP_011537072.1:p.Gly5468Val
XM_011538771.1:c.16400G>T	XP_011537073.1:p.Gly5467Val
XM_011538772.1:c.16394G>T	XP_011537074.1:p.Gly5465Val
XM_011538773.1:c.16391G>T	XP_011537075.1:p.Gly5464Val
XM_011538774.1:c.16382G>T	XP_011537076.1:p.Gly5461Val
XM_011538775.1:c.16337G>T	XP_011537077.1:p.Gly5446Val
XM_011538776.1:c.16310G>T	XP_011537078.1:p.Gly5437Val
XM_005269162.4:c.16346G>T	XP_005269219.1:p.Gly5449Val
XM_006719614.4:c.16355G>T	XP_006719677.1:p.Gly5452Val
XM_006719616.3:c.16343G>T	XP_006719679.1:p.Gly5448Val
XM_011538770.2:c.16403G>T	XP_011537072.1:p.Gly5468Val
XM_011538771.2:c.16400G>T	XP_011537073.1:p.Gly5467Val
XM_011538772.2:c.16394G>T	XP_011537074.1:p.Gly5465Val
XM_011538773.2:c.16391G>T	XP_011537075.1:p.Gly5464Val
XM_011538774.2:c.16382G>T	XP_011537076.1:p.Gly5461Val
XM_011538776.2:c.16310G>T	XP_011537078.1:p.Gly5437Val
XR_001748874.1:n.16523G>T
NM_003482.4:c.16346G>T MANE Select	NP_003473.3:p.Gly5449Val