Canonical Allele Identifier: CA384681400

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024628-G-T
• MyVariant Identifiers: chr12:g.49418411G>T (hg19) ; chr12:g.49024628G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024628G>T , CM000674.2:g.49024628G>T	GRCh38
NC_000012.11:g.49418411G>T , CM000674.1:g.49418411G>T	GRCh37
NC_000012.10:g.47704678G>T	NCBI36
NG_027827.1:g.35697C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.674C>A
ENST00000683543.2:c.16002C>A	ENSP00000506726.1:p.Asn5334Lys
ENST00000683863.1:n.1717C>A
ENST00000684428.1:c.537C>A	ENSP00000507433.1:p.Asn179Lys
ENST00000684755.1:n.537C>A
ENST00000685024.1:c.1156C>A
ENST00000685166.1:c.16011C>A	ENSP00000509386.1:p.Asn5337Lys
ENST00000688411.1:c.479C>A	ENSP00000510146.1:n.479C>A
ENST00000691932.1:c.81C>A	ENSP00000509037.1:p.Asn27Lys
ENST00000692637.1:c.15999C>A	ENSP00000509666.1:p.Asn5333Lys
ENST00000301067.12:c.16002C>A MANE Select	ENSP00000301067.7:p.Asn5334Lys
ENST00000301067.11:c.16002C>A	ENSP00000301067.7:p.Asn5334Lys
NM_003482.3:c.16002C>A	NP_003473.3:p.Asn5334Lys
XM_005269162.3:c.16002C>A	XP_005269219.1:p.Asn5334Lys
XM_006719614.2:c.16011C>A	XP_006719677.1:p.Asn5337Lys
XM_006719616.2:c.15999C>A	XP_006719679.1:p.Asn5333Lys
XM_011538770.1:c.16011C>A	XP_011537072.1:p.Asn5337Lys
XM_011538771.1:c.16008C>A	XP_011537073.1:p.Asn5336Lys
XM_011538772.1:c.16002C>A	XP_011537074.1:p.Asn5334Lys
XM_011538773.1:c.15999C>A	XP_011537075.1:p.Asn5333Lys
XM_011538774.1:c.15990C>A	XP_011537076.1:p.Asn5330Lys
XM_011538775.1:c.15945C>A	XP_011537077.1:p.Asn5315Lys
XM_011538776.1:c.15918C>A	XP_011537078.1:p.Asn5306Lys
XM_005269162.4:c.16002C>A	XP_005269219.1:p.Asn5334Lys
XM_006719614.4:c.16011C>A	XP_006719677.1:p.Asn5337Lys
XM_006719616.3:c.15999C>A	XP_006719679.1:p.Asn5333Lys
XM_011538770.2:c.16011C>A	XP_011537072.1:p.Asn5337Lys
XM_011538771.2:c.16008C>A	XP_011537073.1:p.Asn5336Lys
XM_011538772.2:c.16002C>A	XP_011537074.1:p.Asn5334Lys
XM_011538773.2:c.15999C>A	XP_011537075.1:p.Asn5333Lys
XM_011538774.2:c.15990C>A	XP_011537076.1:p.Asn5330Lys
XM_011538776.2:c.15918C>A	XP_011537078.1:p.Asn5306Lys
XR_001748874.1:n.16179C>A
NM_003482.4:c.16002C>A MANE Select	NP_003473.3:p.Asn5334Lys