Canonical Allele Identifier: CA384681854

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137710703
• MyVariant Identifiers: chr12:g.49418458A>T (hg19) ; chr12:g.49024675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024675A>T , CM000674.2:g.49024675A>T	GRCh38
NC_000012.11:g.49418458A>T , CM000674.1:g.49418458A>T	GRCh37
NC_000012.10:g.47704725A>T	NCBI36
NG_027827.1:g.35650T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.627T>A
ENST00000683543.2:c.15955T>A	ENSP00000506726.1:p.Phe5319Ile
ENST00000683863.1:n.1670T>A
ENST00000684428.1:c.490T>A	ENSP00000507433.1:p.Phe164Ile
ENST00000684755.1:n.490T>A
ENST00000685024.1:c.1109T>A
ENST00000685166.1:c.15964T>A	ENSP00000509386.1:p.Phe5322Ile
ENST00000688411.1:c.432T>A	ENSP00000510146.1:n.432T>A
ENST00000691932.1:c.34T>A	ENSP00000509037.1:p.Phe12Ile
ENST00000692637.1:c.15952T>A	ENSP00000509666.1:p.Phe5318Ile
ENST00000301067.12:c.15955T>A MANE Select	ENSP00000301067.7:p.Phe5319Ile
ENST00000301067.11:c.15955T>A	ENSP00000301067.7:p.Phe5319Ile
NM_003482.3:c.15955T>A	NP_003473.3:p.Phe5319Ile
XM_005269162.3:c.15955T>A	XP_005269219.1:p.Phe5319Ile
XM_006719614.2:c.15964T>A	XP_006719677.1:p.Phe5322Ile
XM_006719616.2:c.15952T>A	XP_006719679.1:p.Phe5318Ile
XM_011538770.1:c.15964T>A	XP_011537072.1:p.Phe5322Ile
XM_011538771.1:c.15961T>A	XP_011537073.1:p.Phe5321Ile
XM_011538772.1:c.15955T>A	XP_011537074.1:p.Phe5319Ile
XM_011538773.1:c.15952T>A	XP_011537075.1:p.Phe5318Ile
XM_011538774.1:c.15943T>A	XP_011537076.1:p.Phe5315Ile
XM_011538775.1:c.15898T>A	XP_011537077.1:p.Phe5300Ile
XM_011538776.1:c.15871T>A	XP_011537078.1:p.Phe5291Ile
XM_005269162.4:c.15955T>A	XP_005269219.1:p.Phe5319Ile
XM_006719614.4:c.15964T>A	XP_006719677.1:p.Phe5322Ile
XM_006719616.3:c.15952T>A	XP_006719679.1:p.Phe5318Ile
XM_011538770.2:c.15964T>A	XP_011537072.1:p.Phe5322Ile
XM_011538771.2:c.15961T>A	XP_011537073.1:p.Phe5321Ile
XM_011538772.2:c.15955T>A	XP_011537074.1:p.Phe5319Ile
XM_011538773.2:c.15952T>A	XP_011537075.1:p.Phe5318Ile
XM_011538774.2:c.15943T>A	XP_011537076.1:p.Phe5315Ile
XM_011538776.2:c.15871T>A	XP_011537078.1:p.Phe5291Ile
XR_001748874.1:n.16132T>A
NM_003482.4:c.15955T>A MANE Select	NP_003473.3:p.Phe5319Ile