Canonical Allele Identifier: CA384677452

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416392T>G (hg19) ; chr12:g.49022609T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022609T>G , CM000674.2:g.49022609T>G	GRCh38
NC_000012.11:g.49416392T>G , CM000674.1:g.49416392T>G	GRCh37
NC_000012.10:g.47702659T>G	NCBI36
NG_027827.1:g.37716A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.289A>C
ENST00000681974.1:n.991A>C
ENST00000682693.1:n.1953A>C
ENST00000682886.1:n.489A>C
ENST00000683543.2:c.16367A>C	ENSP00000506726.1:p.Glu5456Ala
ENST00000683988.1:c.290A>C	ENSP00000506939.1:p.Glu97Ala
ENST00000684428.1:c.854A>C	ENSP00000507433.1:p.Glu285Ala
ENST00000684755.1:n.902A>C
ENST00000685024.1:c.1473A>C
ENST00000685166.1:c.16328A>C	ENSP00000509386.1:p.Glu5443Ala
ENST00000688411.1:c.796A>C	ENSP00000510146.1:n.796A>C
ENST00000691932.1:c.320A>C	ENSP00000509037.1:p.Glu107Ala
ENST00000692637.1:c.16316A>C	ENSP00000509666.1:p.Glu5439Ala
ENST00000301067.12:c.16319A>C MANE Select	ENSP00000301067.7:p.Glu5440Ala
ENST00000301067.11:c.16319A>C	ENSP00000301067.7:p.Glu5440Ala
ENST00000526209.1:c.362A>C	ENSP00000435714.1:p.Glu121Ala
NM_003482.3:c.16319A>C	NP_003473.3:p.Glu5440Ala
XM_005269162.3:c.16319A>C	XP_005269219.1:p.Glu5440Ala
XM_006719614.2:c.16328A>C	XP_006719677.1:p.Glu5443Ala
XM_006719616.2:c.16316A>C	XP_006719679.1:p.Glu5439Ala
XM_011538770.1:c.16376A>C	XP_011537072.1:p.Glu5459Ala
XM_011538771.1:c.16373A>C	XP_011537073.1:p.Glu5458Ala
XM_011538772.1:c.16367A>C	XP_011537074.1:p.Glu5456Ala
XM_011538773.1:c.16364A>C	XP_011537075.1:p.Glu5455Ala
XM_011538774.1:c.16355A>C	XP_011537076.1:p.Glu5452Ala
XM_011538775.1:c.16310A>C	XP_011537077.1:p.Glu5437Ala
XM_011538776.1:c.16283A>C	XP_011537078.1:p.Glu5428Ala
XM_005269162.4:c.16319A>C	XP_005269219.1:p.Glu5440Ala
XM_006719614.4:c.16328A>C	XP_006719677.1:p.Glu5443Ala
XM_006719616.3:c.16316A>C	XP_006719679.1:p.Glu5439Ala
XM_011538770.2:c.16376A>C	XP_011537072.1:p.Glu5459Ala
XM_011538771.2:c.16373A>C	XP_011537073.1:p.Glu5458Ala
XM_011538772.2:c.16367A>C	XP_011537074.1:p.Glu5456Ala
XM_011538773.2:c.16364A>C	XP_011537075.1:p.Glu5455Ala
XM_011538774.2:c.16355A>C	XP_011537076.1:p.Glu5452Ala
XM_011538776.2:c.16283A>C	XP_011537078.1:p.Glu5428Ala
XR_001748874.1:n.16496A>C
NM_003482.4:c.16319A>C MANE Select	NP_003473.3:p.Glu5440Ala