Canonical Allele Identifier: CA384677330

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416375G>T (hg19) ; chr12:g.49022592G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022592G>T , CM000674.2:g.49022592G>T	GRCh38
NC_000012.11:g.49416375G>T , CM000674.1:g.49416375G>T	GRCh37
NC_000012.10:g.47702642G>T	NCBI36
NG_027827.1:g.37733C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.306C>A
ENST00000681974.1:n.1008C>A
ENST00000682693.1:n.1970C>A
ENST00000682886.1:n.506C>A
ENST00000683543.2:c.16384C>A	ENSP00000506726.1:p.Gln5462Lys
ENST00000683988.1:c.307C>A	ENSP00000506939.1:p.Gln103Lys
ENST00000684428.1:c.871C>A	ENSP00000507433.1:p.Gln291Lys
ENST00000684755.1:n.919C>A
ENST00000685024.1:c.1490C>A
ENST00000685166.1:c.16345C>A	ENSP00000509386.1:p.Gln5449Lys
ENST00000688411.1:c.813C>A	ENSP00000510146.1:n.813C>A
ENST00000691932.1:c.337C>A	ENSP00000509037.1:p.Gln113Lys
ENST00000692637.1:c.16333C>A	ENSP00000509666.1:p.Gln5445Lys
ENST00000301067.12:c.16336C>A MANE Select	ENSP00000301067.7:p.Gln5446Lys
ENST00000301067.11:c.16336C>A	ENSP00000301067.7:p.Gln5446Lys
ENST00000526209.1:c.379C>A	ENSP00000435714.1:p.Gln127Lys
NM_003482.3:c.16336C>A	NP_003473.3:p.Gln5446Lys
XM_005269162.3:c.16336C>A	XP_005269219.1:p.Gln5446Lys
XM_006719614.2:c.16345C>A	XP_006719677.1:p.Gln5449Lys
XM_006719616.2:c.16333C>A	XP_006719679.1:p.Gln5445Lys
XM_011538770.1:c.16393C>A	XP_011537072.1:p.Gln5465Lys
XM_011538771.1:c.16390C>A	XP_011537073.1:p.Gln5464Lys
XM_011538772.1:c.16384C>A	XP_011537074.1:p.Gln5462Lys
XM_011538773.1:c.16381C>A	XP_011537075.1:p.Gln5461Lys
XM_011538774.1:c.16372C>A	XP_011537076.1:p.Gln5458Lys
XM_011538775.1:c.16327C>A	XP_011537077.1:p.Gln5443Lys
XM_011538776.1:c.16300C>A	XP_011537078.1:p.Gln5434Lys
XM_005269162.4:c.16336C>A	XP_005269219.1:p.Gln5446Lys
XM_006719614.4:c.16345C>A	XP_006719677.1:p.Gln5449Lys
XM_006719616.3:c.16333C>A	XP_006719679.1:p.Gln5445Lys
XM_011538770.2:c.16393C>A	XP_011537072.1:p.Gln5465Lys
XM_011538771.2:c.16390C>A	XP_011537073.1:p.Gln5464Lys
XM_011538772.2:c.16384C>A	XP_011537074.1:p.Gln5462Lys
XM_011538773.2:c.16381C>A	XP_011537075.1:p.Gln5461Lys
XM_011538774.2:c.16372C>A	XP_011537076.1:p.Gln5458Lys
XM_011538776.2:c.16300C>A	XP_011537078.1:p.Gln5434Lys
XR_001748874.1:n.16513C>A
NM_003482.4:c.16336C>A MANE Select	NP_003473.3:p.Gln5446Lys