Canonical Allele Identifier: CA479521052

Gene: KMT2D

Linked Data

• dbSNP Id: rs1364088731
• gnomAD v2: 12-49416391-C-T
• MyVariant Identifiers: chr12:g.49416391C>T (hg19) ; chr12:g.49022608C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022608C>T , CM000674.2:g.49022608C>T	GRCh38
NC_000012.11:g.49416391C>T , CM000674.1:g.49416391C>T	GRCh37
NC_000012.10:g.47702658C>T	NCBI36
NG_027827.1:g.37717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.290G>A
ENST00000681974.1:n.992G>A
ENST00000682693.1:n.1954G>A
ENST00000682886.1:n.490G>A
ENST00000683543.2:c.16368G>A	ENSP00000506726.1:p.Glu5456=
ENST00000683988.1:c.291G>A	ENSP00000506939.1:p.Glu97=
ENST00000684428.1:c.855G>A	ENSP00000507433.1:p.Glu285=
ENST00000684755.1:n.903G>A
ENST00000685024.1:c.1474G>A
ENST00000685166.1:c.16329G>A	ENSP00000509386.1:p.Glu5443=
ENST00000688411.1:c.797G>A	ENSP00000510146.1:n.797G>A
ENST00000691932.1:c.321G>A	ENSP00000509037.1:p.Glu107=
ENST00000692637.1:c.16317G>A	ENSP00000509666.1:p.Glu5439=
ENST00000301067.12:c.16320G>A MANE Select	ENSP00000301067.7:p.Glu5440=
ENST00000301067.11:c.16320G>A	ENSP00000301067.7:p.Glu5440=
ENST00000526209.1:c.363G>A	ENSP00000435714.1:p.Glu121=
NM_003482.3:c.16320G>A	NP_003473.3:p.Glu5440=
XM_005269162.3:c.16320G>A	XP_005269219.1:p.Glu5440=
XM_006719614.2:c.16329G>A	XP_006719677.1:p.Glu5443=
XM_006719616.2:c.16317G>A	XP_006719679.1:p.Glu5439=
XM_011538770.1:c.16377G>A	XP_011537072.1:p.Glu5459=
XM_011538771.1:c.16374G>A	XP_011537073.1:p.Glu5458=
XM_011538772.1:c.16368G>A	XP_011537074.1:p.Glu5456=
XM_011538773.1:c.16365G>A	XP_011537075.1:p.Glu5455=
XM_011538774.1:c.16356G>A	XP_011537076.1:p.Glu5452=
XM_011538775.1:c.16311G>A	XP_011537077.1:p.Glu5437=
XM_011538776.1:c.16284G>A	XP_011537078.1:p.Glu5428=
XM_005269162.4:c.16320G>A	XP_005269219.1:p.Glu5440=
XM_006719614.4:c.16329G>A	XP_006719677.1:p.Glu5443=
XM_006719616.3:c.16317G>A	XP_006719679.1:p.Glu5439=
XM_011538770.2:c.16377G>A	XP_011537072.1:p.Glu5459=
XM_011538771.2:c.16374G>A	XP_011537073.1:p.Glu5458=
XM_011538772.2:c.16368G>A	XP_011537074.1:p.Glu5456=
XM_011538773.2:c.16365G>A	XP_011537075.1:p.Glu5455=
XM_011538774.2:c.16356G>A	XP_011537076.1:p.Glu5452=
XM_011538776.2:c.16284G>A	XP_011537078.1:p.Glu5428=
XR_001748874.1:n.16497G>A
NM_003482.4:c.16320G>A MANE Select	NP_003473.3:p.Glu5440=