Canonical Allele Identifier: CA384676131

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703839
• MyVariant Identifiers: chr12:g.49415893A>T (hg19) ; chr12:g.49022110A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022110A>T , CM000674.2:g.49022110A>T	GRCh38
NC_000012.11:g.49415893A>T , CM000674.1:g.49415893A>T	GRCh37
NC_000012.10:g.47702160A>T	NCBI36
NG_027827.1:g.38215T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.424T>A
ENST00000681974.1:n.1126T>A
ENST00000682693.1:n.2088T>A
ENST00000682886.1:n.860T>A
ENST00000683543.2:c.16502T>A	ENSP00000506726.1:p.Val5501Asp
ENST00000683988.1:c.425T>A	ENSP00000506939.1:p.Val142Asp
ENST00000684428.1:c.1047T>A	ENSP00000507433.1:n.1047T>A
ENST00000685024.1:c.1608T>A
ENST00000685166.1:c.16463T>A	ENSP00000509386.1:p.Val5488Asp
ENST00000691932.1:c.455T>A	ENSP00000509037.1:p.Val152Asp
ENST00000692637.1:c.16451T>A	ENSP00000509666.1:p.Val5484Asp
ENST00000301067.12:c.16454T>A MANE Select	ENSP00000301067.7:p.Val5485Asp
ENST00000301067.11:c.16454T>A	ENSP00000301067.7:p.Val5485Asp
ENST00000526209.1:c.497T>A	ENSP00000435714.1:p.Val166Asp
NM_003482.3:c.16454T>A	NP_003473.3:p.Val5485Asp
XM_005269162.3:c.16454T>A	XP_005269219.1:p.Val5485Asp
XM_006719614.2:c.16463T>A	XP_006719677.1:p.Val5488Asp
XM_006719616.2:c.16451T>A	XP_006719679.1:p.Val5484Asp
XM_011538770.1:c.16511T>A	XP_011537072.1:p.Val5504Asp
XM_011538771.1:c.16508T>A	XP_011537073.1:p.Val5503Asp
XM_011538772.1:c.16502T>A	XP_011537074.1:p.Val5501Asp
XM_011538773.1:c.16499T>A	XP_011537075.1:p.Val5500Asp
XM_011538774.1:c.16490T>A	XP_011537076.1:p.Val5497Asp
XM_011538775.1:c.16445T>A	XP_011537077.1:p.Val5482Asp
XM_011538776.1:c.16418T>A	XP_011537078.1:p.Val5473Asp
XM_005269162.4:c.16454T>A	XP_005269219.1:p.Val5485Asp
XM_006719614.4:c.16463T>A	XP_006719677.1:p.Val5488Asp
XM_006719616.3:c.16451T>A	XP_006719679.1:p.Val5484Asp
XM_011538770.2:c.16511T>A	XP_011537072.1:p.Val5504Asp
XM_011538771.2:c.16508T>A	XP_011537073.1:p.Val5503Asp
XM_011538772.2:c.16502T>A	XP_011537074.1:p.Val5501Asp
XM_011538773.2:c.16499T>A	XP_011537075.1:p.Val5500Asp
XM_011538774.2:c.16490T>A	XP_011537076.1:p.Val5497Asp
XM_011538776.2:c.16418T>A	XP_011537078.1:p.Val5473Asp
XR_001748874.1:n.16631T>A
NM_003482.4:c.16454T>A MANE Select	NP_003473.3:p.Val5485Asp