Canonical Allele Identifier: CA384682766

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711568
• MyVariant Identifiers: chr12:g.49418632A>T (hg19) ; chr12:g.49024849A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024849A>T , CM000674.2:g.49024849A>T	GRCh38
NC_000012.11:g.49418632A>T , CM000674.1:g.49418632A>T	GRCh37
NC_000012.10:g.47704899A>T	NCBI36
NG_027827.1:g.35476T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.554T>A
ENST00000683543.2:c.15882T>A	ENSP00000506726.1:p.Phe5294Leu
ENST00000683863.1:n.1597T>A
ENST00000684428.1:c.417T>A	ENSP00000507433.1:p.Phe139Leu
ENST00000684755.1:n.417T>A
ENST00000685024.1:c.1007T>A
ENST00000685166.1:c.15891T>A	ENSP00000509386.1:p.Phe5297Leu
ENST00000688411.1:c.359T>A	ENSP00000510146.1:n.359T>A
ENST00000691463.1:c.1268T>A	ENSP00000510624.1:n.1268T>A
ENST00000692637.1:c.15879T>A	ENSP00000509666.1:p.Phe5293Leu
ENST00000301067.12:c.15882T>A MANE Select	ENSP00000301067.7:p.Phe5294Leu
ENST00000301067.11:c.15882T>A	ENSP00000301067.7:p.Phe5294Leu
NM_003482.3:c.15882T>A	NP_003473.3:p.Phe5294Leu
XM_005269162.3:c.15882T>A	XP_005269219.1:p.Phe5294Leu
XM_006719614.2:c.15891T>A	XP_006719677.1:p.Phe5297Leu
XM_006719616.2:c.15879T>A	XP_006719679.1:p.Phe5293Leu
XM_011538770.1:c.15891T>A	XP_011537072.1:p.Phe5297Leu
XM_011538771.1:c.15888T>A	XP_011537073.1:p.Phe5296Leu
XM_011538772.1:c.15882T>A	XP_011537074.1:p.Phe5294Leu
XM_011538773.1:c.15879T>A	XP_011537075.1:p.Phe5293Leu
XM_011538774.1:c.15870T>A	XP_011537076.1:p.Phe5290Leu
XM_011538775.1:c.15825T>A	XP_011537077.1:p.Phe5275Leu
XM_011538776.1:c.15798T>A	XP_011537078.1:p.Phe5266Leu
XR_944740.1:n.17070T>A
XM_005269162.4:c.15882T>A	XP_005269219.1:p.Phe5294Leu
XM_006719614.4:c.15891T>A	XP_006719677.1:p.Phe5297Leu
XM_006719616.3:c.15879T>A	XP_006719679.1:p.Phe5293Leu
XM_011538770.2:c.15891T>A	XP_011537072.1:p.Phe5297Leu
XM_011538771.2:c.15888T>A	XP_011537073.1:p.Phe5296Leu
XM_011538772.2:c.15882T>A	XP_011537074.1:p.Phe5294Leu
XM_011538773.2:c.15879T>A	XP_011537075.1:p.Phe5293Leu
XM_011538774.2:c.15870T>A	XP_011537076.1:p.Phe5290Leu
XM_011538776.2:c.15798T>A	XP_011537078.1:p.Phe5266Leu
XR_001748874.1:n.16059T>A
NM_003482.4:c.15882T>A MANE Select	NP_003473.3:p.Phe5294Leu