Canonical Allele Identifier: CA384676979

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2828864
• ClinVar RCV Id: RCV003754404
• MyVariant Identifiers: chr12:g.49416107G>T (hg19) ; chr12:g.49022324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022324G>T , CM000674.2:g.49022324G>T	GRCh38
NC_000012.11:g.49416107G>T , CM000674.1:g.49416107G>T	GRCh37
NC_000012.10:g.47702374G>T	NCBI36
NG_027827.1:g.38001C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.338C>A
ENST00000681974.1:n.1040C>A
ENST00000682693.1:n.2002C>A
ENST00000682886.1:n.774C>A
ENST00000683543.2:c.16416C>A	ENSP00000506726.1:p.Asn5472Lys
ENST00000683988.1:c.339C>A	ENSP00000506939.1:p.Asn113Lys
ENST00000684428.1:c.961C>A	ENSP00000507433.1:p.Gln321Lys
ENST00000685024.1:c.1522C>A
ENST00000685166.1:c.16377C>A	ENSP00000509386.1:p.Asn5459Lys
ENST00000691932.1:c.369C>A	ENSP00000509037.1:p.Asn123Lys
ENST00000692637.1:c.16365C>A	ENSP00000509666.1:p.Asn5455Lys
ENST00000301067.12:c.16368C>A MANE Select	ENSP00000301067.7:p.Asn5456Lys
ENST00000301067.11:c.16368C>A	ENSP00000301067.7:p.Asn5456Lys
ENST00000526209.1:c.411C>A	ENSP00000435714.1:p.Asn137Lys
NM_003482.3:c.16368C>A	NP_003473.3:p.Asn5456Lys
XM_005269162.3:c.16368C>A	XP_005269219.1:p.Asn5456Lys
XM_006719614.2:c.16377C>A	XP_006719677.1:p.Asn5459Lys
XM_006719616.2:c.16365C>A	XP_006719679.1:p.Asn5455Lys
XM_011538770.1:c.16425C>A	XP_011537072.1:p.Asn5475Lys
XM_011538771.1:c.16422C>A	XP_011537073.1:p.Asn5474Lys
XM_011538772.1:c.16416C>A	XP_011537074.1:p.Asn5472Lys
XM_011538773.1:c.16413C>A	XP_011537075.1:p.Asn5471Lys
XM_011538774.1:c.16404C>A	XP_011537076.1:p.Asn5468Lys
XM_011538775.1:c.16359C>A	XP_011537077.1:p.Asn5453Lys
XM_011538776.1:c.16332C>A	XP_011537078.1:p.Asn5444Lys
XM_005269162.4:c.16368C>A	XP_005269219.1:p.Asn5456Lys
XM_006719614.4:c.16377C>A	XP_006719677.1:p.Asn5459Lys
XM_006719616.3:c.16365C>A	XP_006719679.1:p.Asn5455Lys
XM_011538770.2:c.16425C>A	XP_011537072.1:p.Asn5475Lys
XM_011538771.2:c.16422C>A	XP_011537073.1:p.Asn5474Lys
XM_011538772.2:c.16416C>A	XP_011537074.1:p.Asn5472Lys
XM_011538773.2:c.16413C>A	XP_011537075.1:p.Asn5471Lys
XM_011538774.2:c.16404C>A	XP_011537076.1:p.Asn5468Lys
XM_011538776.2:c.16332C>A	XP_011537078.1:p.Asn5444Lys
XR_001748874.1:n.16545C>A
NM_003482.4:c.16368C>A MANE Select	NP_003473.3:p.Asn5456Lys