Canonical Allele Identifier: CA384677435

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2433230
• ClinVar RCV Id: RCV003131397 ; RCV003377931
• dbSNP Id: rs1393519900
• gnomAD v2: 12-49416390-T-C
• MyVariant Identifiers: chr12:g.49416390T>C (hg19) ; chr12:g.49022607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022607T>C , CM000674.2:g.49022607T>C	GRCh38
NC_000012.11:g.49416390T>C , CM000674.1:g.49416390T>C	GRCh37
NC_000012.10:g.47702657T>C	NCBI36
NG_027827.1:g.37718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.291A>G
ENST00000681974.1:n.993A>G
ENST00000682693.1:n.1955A>G
ENST00000682886.1:n.491A>G
ENST00000683543.2:c.16369A>G	ENSP00000506726.1:p.Lys5457Glu
ENST00000683988.1:c.292A>G	ENSP00000506939.1:p.Lys98Glu
ENST00000684428.1:c.856A>G	ENSP00000507433.1:p.Lys286Glu
ENST00000684755.1:n.904A>G
ENST00000685024.1:c.1475A>G
ENST00000685166.1:c.16330A>G	ENSP00000509386.1:p.Lys5444Glu
ENST00000688411.1:c.798A>G	ENSP00000510146.1:n.798A>G
ENST00000691932.1:c.322A>G	ENSP00000509037.1:p.Lys108Glu
ENST00000692637.1:c.16318A>G	ENSP00000509666.1:p.Lys5440Glu
ENST00000301067.12:c.16321A>G MANE Select	ENSP00000301067.7:p.Lys5441Glu
ENST00000301067.11:c.16321A>G	ENSP00000301067.7:p.Lys5441Glu
ENST00000526209.1:c.364A>G	ENSP00000435714.1:p.Lys122Glu
NM_003482.3:c.16321A>G	NP_003473.3:p.Lys5441Glu
XM_005269162.3:c.16321A>G	XP_005269219.1:p.Lys5441Glu
XM_006719614.2:c.16330A>G	XP_006719677.1:p.Lys5444Glu
XM_006719616.2:c.16318A>G	XP_006719679.1:p.Lys5440Glu
XM_011538770.1:c.16378A>G	XP_011537072.1:p.Lys5460Glu
XM_011538771.1:c.16375A>G	XP_011537073.1:p.Lys5459Glu
XM_011538772.1:c.16369A>G	XP_011537074.1:p.Lys5457Glu
XM_011538773.1:c.16366A>G	XP_011537075.1:p.Lys5456Glu
XM_011538774.1:c.16357A>G	XP_011537076.1:p.Lys5453Glu
XM_011538775.1:c.16312A>G	XP_011537077.1:p.Lys5438Glu
XM_011538776.1:c.16285A>G	XP_011537078.1:p.Lys5429Glu
XM_005269162.4:c.16321A>G	XP_005269219.1:p.Lys5441Glu
XM_006719614.4:c.16330A>G	XP_006719677.1:p.Lys5444Glu
XM_006719616.3:c.16318A>G	XP_006719679.1:p.Lys5440Glu
XM_011538770.2:c.16378A>G	XP_011537072.1:p.Lys5460Glu
XM_011538771.2:c.16375A>G	XP_011537073.1:p.Lys5459Glu
XM_011538772.2:c.16369A>G	XP_011537074.1:p.Lys5457Glu
XM_011538773.2:c.16366A>G	XP_011537075.1:p.Lys5456Glu
XM_011538774.2:c.16357A>G	XP_011537076.1:p.Lys5453Glu
XM_011538776.2:c.16285A>G	XP_011537078.1:p.Lys5429Glu
XR_001748874.1:n.16498A>G
NM_003482.4:c.16321A>G MANE Select	NP_003473.3:p.Lys5441Glu