Canonical Allele Identifier: CA384677343

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416378C>A (hg19) ; chr12:g.49022595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022595C>A , CM000674.2:g.49022595C>A	GRCh38
NC_000012.11:g.49416378C>A , CM000674.1:g.49416378C>A	GRCh37
NC_000012.10:g.47702645C>A	NCBI36
NG_027827.1:g.37730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.303G>T
ENST00000681974.1:n.1005G>T
ENST00000682693.1:n.1967G>T
ENST00000682886.1:n.503G>T
ENST00000683543.2:c.16381G>T	ENSP00000506726.1:p.Glu5461Ter
ENST00000683988.1:c.304G>T	ENSP00000506939.1:p.Glu102Ter
ENST00000684428.1:c.868G>T	ENSP00000507433.1:p.Glu290Ter
ENST00000684755.1:n.916G>T
ENST00000685024.1:c.1487G>T
ENST00000685166.1:c.16342G>T	ENSP00000509386.1:p.Glu5448Ter
ENST00000688411.1:c.810G>T	ENSP00000510146.1:n.810G>T
ENST00000691932.1:c.334G>T	ENSP00000509037.1:p.Glu112Ter
ENST00000692637.1:c.16330G>T	ENSP00000509666.1:p.Glu5444Ter
ENST00000301067.12:c.16333G>T MANE Select	ENSP00000301067.7:p.Glu5445Ter
ENST00000301067.11:c.16333G>T	ENSP00000301067.7:p.Glu5445Ter
ENST00000526209.1:c.376G>T	ENSP00000435714.1:p.Glu126Ter
NM_003482.3:c.16333G>T	NP_003473.3:p.Glu5445Ter
XM_005269162.3:c.16333G>T	XP_005269219.1:p.Glu5445Ter
XM_006719614.2:c.16342G>T	XP_006719677.1:p.Glu5448Ter
XM_006719616.2:c.16330G>T	XP_006719679.1:p.Glu5444Ter
XM_011538770.1:c.16390G>T	XP_011537072.1:p.Glu5464Ter
XM_011538771.1:c.16387G>T	XP_011537073.1:p.Glu5463Ter
XM_011538772.1:c.16381G>T	XP_011537074.1:p.Glu5461Ter
XM_011538773.1:c.16378G>T	XP_011537075.1:p.Glu5460Ter
XM_011538774.1:c.16369G>T	XP_011537076.1:p.Glu5457Ter
XM_011538775.1:c.16324G>T	XP_011537077.1:p.Glu5442Ter
XM_011538776.1:c.16297G>T	XP_011537078.1:p.Glu5433Ter
XM_005269162.4:c.16333G>T	XP_005269219.1:p.Glu5445Ter
XM_006719614.4:c.16342G>T	XP_006719677.1:p.Glu5448Ter
XM_006719616.3:c.16330G>T	XP_006719679.1:p.Glu5444Ter
XM_011538770.2:c.16390G>T	XP_011537072.1:p.Glu5464Ter
XM_011538771.2:c.16387G>T	XP_011537073.1:p.Glu5463Ter
XM_011538772.2:c.16381G>T	XP_011537074.1:p.Glu5461Ter
XM_011538773.2:c.16378G>T	XP_011537075.1:p.Glu5460Ter
XM_011538774.2:c.16369G>T	XP_011537076.1:p.Glu5457Ter
XM_011538776.2:c.16297G>T	XP_011537078.1:p.Glu5433Ter
XR_001748874.1:n.16510G>T
NM_003482.4:c.16333G>T MANE Select	NP_003473.3:p.Glu5445Ter