Canonical Allele Identifier: CA384677328

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706132
• MyVariant Identifiers: chr12:g.49416375G>C (hg19) ; chr12:g.49022592G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.306C>G
ENST00000681974.1:n.1008C>G
ENST00000682693.1:n.1970C>G
ENST00000682886.1:n.506C>G
ENST00000683543.2:c.16384C>G	ENSP00000506726.1:p.Gln5462Glu
ENST00000683988.1:c.307C>G	ENSP00000506939.1:p.Gln103Glu
ENST00000684428.1:c.871C>G	ENSP00000507433.1:p.Gln291Glu
ENST00000684755.1:n.919C>G
ENST00000685024.1:c.1490C>G
ENST00000685166.1:c.16345C>G	ENSP00000509386.1:p.Gln5449Glu
ENST00000688411.1:c.813C>G	ENSP00000510146.1:n.813C>G
ENST00000691932.1:c.337C>G	ENSP00000509037.1:p.Gln113Glu
ENST00000692637.1:c.16333C>G	ENSP00000509666.1:p.Gln5445Glu
ENST00000301067.12:c.16336C>G MANE Select	ENSP00000301067.7:p.Gln5446Glu
ENST00000301067.11:c.16336C>G	ENSP00000301067.7:p.Gln5446Glu
ENST00000526209.1:c.379C>G	ENSP00000435714.1:p.Gln127Glu
NM_003482.3:c.16336C>G	NP_003473.3:p.Gln5446Glu
XM_005269162.3:c.16336C>G	XP_005269219.1:p.Gln5446Glu
XM_006719614.2:c.16345C>G	XP_006719677.1:p.Gln5449Glu
XM_006719616.2:c.16333C>G	XP_006719679.1:p.Gln5445Glu
XM_011538770.1:c.16393C>G	XP_011537072.1:p.Gln5465Glu
XM_011538771.1:c.16390C>G	XP_011537073.1:p.Gln5464Glu
XM_011538772.1:c.16384C>G	XP_011537074.1:p.Gln5462Glu
XM_011538773.1:c.16381C>G	XP_011537075.1:p.Gln5461Glu
XM_011538774.1:c.16372C>G	XP_011537076.1:p.Gln5458Glu
XM_011538775.1:c.16327C>G	XP_011537077.1:p.Gln5443Glu
XM_011538776.1:c.16300C>G	XP_011537078.1:p.Gln5434Glu
XM_005269162.4:c.16336C>G	XP_005269219.1:p.Gln5446Glu
XM_006719614.4:c.16345C>G	XP_006719677.1:p.Gln5449Glu
XM_006719616.3:c.16333C>G	XP_006719679.1:p.Gln5445Glu
XM_011538770.2:c.16393C>G	XP_011537072.1:p.Gln5465Glu
XM_011538771.2:c.16390C>G	XP_011537073.1:p.Gln5464Glu
XM_011538772.2:c.16384C>G	XP_011537074.1:p.Gln5462Glu
XM_011538773.2:c.16381C>G	XP_011537075.1:p.Gln5461Glu
XM_011538774.2:c.16372C>G	XP_011537076.1:p.Gln5458Glu
XM_011538776.2:c.16300C>G	XP_011537078.1:p.Gln5434Glu
XR_001748874.1:n.16513C>G
NM_003482.4:c.16336C>G MANE Select	NP_003473.3:p.Gln5446Glu