Canonical Allele Identifier: CA384681343

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418401A>T (hg19) ; chr12:g.49024618A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024618A>T , CM000674.2:g.49024618A>T	GRCh38
NC_000012.11:g.49418401A>T , CM000674.1:g.49418401A>T	GRCh37
NC_000012.10:g.47704668A>T	NCBI36
NG_027827.1:g.35707T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.684T>A
ENST00000683543.2:c.16012T>A	ENSP00000506726.1:p.Cys5338Ser
ENST00000683863.1:n.1727T>A
ENST00000684428.1:c.547T>A	ENSP00000507433.1:p.Cys183Ser
ENST00000684755.1:n.547T>A
ENST00000685024.1:c.1166T>A
ENST00000685166.1:c.16021T>A	ENSP00000509386.1:p.Cys5341Ser
ENST00000688411.1:c.489T>A	ENSP00000510146.1:n.489T>A
ENST00000691932.1:c.91T>A	ENSP00000509037.1:p.Cys31Ser
ENST00000692637.1:c.16009T>A	ENSP00000509666.1:p.Cys5337Ser
ENST00000301067.12:c.16012T>A MANE Select	ENSP00000301067.7:p.Cys5338Ser
ENST00000301067.11:c.16012T>A	ENSP00000301067.7:p.Cys5338Ser
ENST00000526209.1:c.7T>A	ENSP00000435714.1:p.Cys3Ser
NM_003482.3:c.16012T>A	NP_003473.3:p.Cys5338Ser
XM_005269162.3:c.16012T>A	XP_005269219.1:p.Cys5338Ser
XM_006719614.2:c.16021T>A	XP_006719677.1:p.Cys5341Ser
XM_006719616.2:c.16009T>A	XP_006719679.1:p.Cys5337Ser
XM_011538770.1:c.16021T>A	XP_011537072.1:p.Cys5341Ser
XM_011538771.1:c.16018T>A	XP_011537073.1:p.Cys5340Ser
XM_011538772.1:c.16012T>A	XP_011537074.1:p.Cys5338Ser
XM_011538773.1:c.16009T>A	XP_011537075.1:p.Cys5337Ser
XM_011538774.1:c.16000T>A	XP_011537076.1:p.Cys5334Ser
XM_011538775.1:c.15955T>A	XP_011537077.1:p.Cys5319Ser
XM_011538776.1:c.15928T>A	XP_011537078.1:p.Cys5310Ser
XM_005269162.4:c.16012T>A	XP_005269219.1:p.Cys5338Ser
XM_006719614.4:c.16021T>A	XP_006719677.1:p.Cys5341Ser
XM_006719616.3:c.16009T>A	XP_006719679.1:p.Cys5337Ser
XM_011538770.2:c.16021T>A	XP_011537072.1:p.Cys5341Ser
XM_011538771.2:c.16018T>A	XP_011537073.1:p.Cys5340Ser
XM_011538772.2:c.16012T>A	XP_011537074.1:p.Cys5338Ser
XM_011538773.2:c.16009T>A	XP_011537075.1:p.Cys5337Ser
XM_011538774.2:c.16000T>A	XP_011537076.1:p.Cys5334Ser
XM_011538776.2:c.15928T>A	XP_011537078.1:p.Cys5310Ser
XR_001748874.1:n.16189T>A
NM_003482.4:c.16012T>A MANE Select	NP_003473.3:p.Cys5338Ser