Canonical Allele Identifier: CA384682098

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418475C>T (hg19) ; chr12:g.49024692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024692C>T , CM000674.2:g.49024692C>T	GRCh38
NC_000012.11:g.49418475C>T , CM000674.1:g.49418475C>T	GRCh37
NC_000012.10:g.47704742C>T	NCBI36
NG_027827.1:g.35633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.610G>A
ENST00000683543.2:c.15938G>A	ENSP00000506726.1:p.Ser5313Asn
ENST00000683863.1:n.1653G>A
ENST00000684428.1:c.473G>A	ENSP00000507433.1:p.Ser158Asn
ENST00000684755.1:n.473G>A
ENST00000685024.1:c.1092G>A
ENST00000685166.1:c.15947G>A	ENSP00000509386.1:p.Ser5316Asn
ENST00000688411.1:c.415G>A	ENSP00000510146.1:n.415G>A
ENST00000691932.1:c.17G>A	ENSP00000509037.1:p.Ser6Asn
ENST00000692637.1:c.15935G>A	ENSP00000509666.1:p.Ser5312Asn
ENST00000301067.12:c.15938G>A MANE Select	ENSP00000301067.7:p.Ser5313Asn
ENST00000301067.11:c.15938G>A	ENSP00000301067.7:p.Ser5313Asn
NM_003482.3:c.15938G>A	NP_003473.3:p.Ser5313Asn
XM_005269162.3:c.15938G>A	XP_005269219.1:p.Ser5313Asn
XM_006719614.2:c.15947G>A	XP_006719677.1:p.Ser5316Asn
XM_006719616.2:c.15935G>A	XP_006719679.1:p.Ser5312Asn
XM_011538770.1:c.15947G>A	XP_011537072.1:p.Ser5316Asn
XM_011538771.1:c.15944G>A	XP_011537073.1:p.Ser5315Asn
XM_011538772.1:c.15938G>A	XP_011537074.1:p.Ser5313Asn
XM_011538773.1:c.15935G>A	XP_011537075.1:p.Ser5312Asn
XM_011538774.1:c.15926G>A	XP_011537076.1:p.Ser5309Asn
XM_011538775.1:c.15881G>A	XP_011537077.1:p.Ser5294Asn
XM_011538776.1:c.15854G>A	XP_011537078.1:p.Ser5285Asn
XR_944740.1:n.17126G>A
XM_005269162.4:c.15938G>A	XP_005269219.1:p.Ser5313Asn
XM_006719614.4:c.15947G>A	XP_006719677.1:p.Ser5316Asn
XM_006719616.3:c.15935G>A	XP_006719679.1:p.Ser5312Asn
XM_011538770.2:c.15947G>A	XP_011537072.1:p.Ser5316Asn
XM_011538771.2:c.15944G>A	XP_011537073.1:p.Ser5315Asn
XM_011538772.2:c.15938G>A	XP_011537074.1:p.Ser5313Asn
XM_011538773.2:c.15935G>A	XP_011537075.1:p.Ser5312Asn
XM_011538774.2:c.15926G>A	XP_011537076.1:p.Ser5309Asn
XM_011538776.2:c.15854G>A	XP_011537078.1:p.Ser5285Asn
XR_001748874.1:n.16115G>A
NM_003482.4:c.15938G>A MANE Select	NP_003473.3:p.Ser5313Asn