Canonical Allele Identifier: CA384676123

Gene: KMT2D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.424T>C
ENST00000681974.1:n.1126T>C
ENST00000682693.1:n.2088T>C
ENST00000682886.1:n.860T>C
ENST00000683543.2:c.16502T>C	ENSP00000506726.1:p.Val5501Ala
ENST00000683988.1:c.425T>C	ENSP00000506939.1:p.Val142Ala
ENST00000684428.1:c.1047T>C	ENSP00000507433.1:n.1047T>C
ENST00000685024.1:c.1608T>C
ENST00000685166.1:c.16463T>C	ENSP00000509386.1:p.Val5488Ala
ENST00000691932.1:c.455T>C	ENSP00000509037.1:p.Val152Ala
ENST00000692637.1:c.16451T>C	ENSP00000509666.1:p.Val5484Ala
ENST00000301067.12:c.16454T>C MANE Select	ENSP00000301067.7:p.Val5485Ala
ENST00000301067.11:c.16454T>C	ENSP00000301067.7:p.Val5485Ala
ENST00000526209.1:c.497T>C	ENSP00000435714.1:p.Val166Ala
NM_003482.3:c.16454T>C	NP_003473.3:p.Val5485Ala
XM_005269162.3:c.16454T>C	XP_005269219.1:p.Val5485Ala
XM_006719614.2:c.16463T>C	XP_006719677.1:p.Val5488Ala
XM_006719616.2:c.16451T>C	XP_006719679.1:p.Val5484Ala
XM_011538770.1:c.16511T>C	XP_011537072.1:p.Val5504Ala
XM_011538771.1:c.16508T>C	XP_011537073.1:p.Val5503Ala
XM_011538772.1:c.16502T>C	XP_011537074.1:p.Val5501Ala
XM_011538773.1:c.16499T>C	XP_011537075.1:p.Val5500Ala
XM_011538774.1:c.16490T>C	XP_011537076.1:p.Val5497Ala
XM_011538775.1:c.16445T>C	XP_011537077.1:p.Val5482Ala
XM_011538776.1:c.16418T>C	XP_011537078.1:p.Val5473Ala
XM_005269162.4:c.16454T>C	XP_005269219.1:p.Val5485Ala
XM_006719614.4:c.16463T>C	XP_006719677.1:p.Val5488Ala
XM_006719616.3:c.16451T>C	XP_006719679.1:p.Val5484Ala
XM_011538770.2:c.16511T>C	XP_011537072.1:p.Val5504Ala
XM_011538771.2:c.16508T>C	XP_011537073.1:p.Val5503Ala
XM_011538772.2:c.16502T>C	XP_011537074.1:p.Val5501Ala
XM_011538773.2:c.16499T>C	XP_011537075.1:p.Val5500Ala
XM_011538774.2:c.16490T>C	XP_011537076.1:p.Val5497Ala
XM_011538776.2:c.16418T>C	XP_011537078.1:p.Val5473Ala
XR_001748874.1:n.16631T>C
NM_003482.4:c.16454T>C MANE Select	NP_003473.3:p.Val5485Ala